{"id":85416,"date":"2024-11-14T14:23:56","date_gmt":"2024-11-14T05:23:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/"},"modified":"2026-07-12T21:20:46","modified_gmt":"2026-07-12T12:20:46","slug":"8q12-microduplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en","title":{"rendered":"8q12 Microduplication Syndrome"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Summary_of_This_Article\" >Summary of This Article<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#What_Is_8q12_Microduplication_Syndrome\" >What Is 8q12 Microduplication Syndrome?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#How_Rare_Is_This_Condition\" >How Rare Is This Condition?<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Cause_of_the_Condition_and_the_Role_of_the_CHD7_Gene\" >Cause of the Condition and the Role of the CHD7 Gene<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Main_Symptoms_and_Physical_Features\" >Main Symptoms and Physical Features<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Developmental_Delay_and_Low_Muscle_Tone\" >Developmental Delay and Low Muscle Tone<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Eye_and_Ear_Features_Including_Duane_Syndrome\" >Eye and Ear Features, Including Duane Syndrome<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Heart_Defects_and_Facial_Features\" >Heart Defects and Facial Features<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Diagnosis_and_How_NIPT_Relates_to_Definitive_Testing\" >Diagnosis, and How NIPT Relates to Definitive Testing<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Developmental_Therapy_and_Medical_Management\" >Developmental Therapy and Medical Management<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Support_for_Families_and_Where_to_Seek_Help\" >Support for Families and Where to Seek Help<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Thinking_Through_Prenatal_Testing\" >Thinking Through Prenatal Testing<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Frequently_Asked_Questions\" >Frequently Asked Questions<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Q_Is_8q12_microduplication_syndrome_inherited_from_a_parent\" >Q. Is 8q12 microduplication syndrome inherited from a parent?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Q_Is_this_the_same_condition_as_CHARGE_syndrome\" >Q. Is this the same condition as CHARGE syndrome?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Q_What_symptoms_can_occur\" >Q. What symptoms can occur?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Q_Can_NIPT_detect_this_duplication\" >Q. Can NIPT detect this duplication?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Q_How_is_a_definitive_diagnosis_made\" >Q. How is a definitive diagnosis made?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\/#Q_Is_there_treatment_and_where_can_families_turn_for_support\" >Q. Is there treatment, and where can families turn for support?<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top:1rem;\"><span class=\"ez-toc-section\" id=\"Summary_of_This_Article\"><\/span>Summary of This Article<span class=\"ez-toc-section-end\"><\/span><\/h2><p><strong>8q12 microduplication syndrome is an extremely rare congenital condition caused by an extra copy of part of the q12 region on the long arm of chromosome 8.<\/strong> It can involve developmental delay, low muscle tone, distinctive facial features, heart defects, restricted eye movement (Duane syndrome), and sensorineural hearing loss. Most cases arise from a new (de novo) genetic change, and only a small number of cases have been reported in the medical literature worldwide. Diagnosis is confirmed with a chromosomal microarray test, and microduplications like this one are not covered by standard <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>. A definitive diagnosis requires amniocentesis or chorionic villus sampling. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> developmental therapy, coordinated multidisciplinary medical care, and family support can all help protect your child&#8217;s quality of life. If you have concerns, please speak with a specialist through genetic counseling.<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">What This Article Covers<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>What 8q12 microduplication syndrome is and why it happens (the cause and the role of the CHD7 gene)<\/li>\n<li>Main symptoms, including developmental delay, heart defects, Duane syndrome, and hearing loss<\/li>\n<li>How chromosomal microarray diagnosis differs from <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> and other definitive tests<\/li>\n<li>How developmental therapy and medical management work, and where families can find support<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"What_Is_8q12_Microduplication_Syndrome\"><\/span>What Is 8q12 Microduplication Syndrome?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>8q12 microduplication syndrome is a rare condition in which an extra copy of a small segment within the q12 region on the long arm (q arm) of chromosome 8 leads to a range of effects on development, the heart, the eyes, and the ears.<\/strong> Human genetic information is packaged into 46 chromosomes. Chromosome 8 is one of them, and the q12 region on its long arm contains several genes involved in neurological development and organ formation.<\/p>\n\n\n\n<p>A &#8220;microduplication&#8221; refers to a region so small it is hard to detect under a microscope, present in one extra copy compared with usual. The specific effects depend on the size of the duplicated region and which genes it includes, which is why the same diagnosis can look different from one child to the next.<\/p>\n\n\n\n<p>Let&#8217;s start by looking at where this change occurs and what it means. Even if the name sounds intimidating, this is not about any part of the body being &#8220;inferior.&#8221; Please think of it simply as a clue that helps guide your child&#8217;s development and health care.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"Diagram showing that 8q12 microduplication syndrome occurs when part of the q12 region on the long arm of chromosome 8 is duplicated into an extra copy\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"40\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">What 8q12 Microduplication Looks Like<\/text>\n  <rect x=\"90\" y=\"70\" width=\"120\" height=\"150\" rx=\"14\" fill=\"#f6b8cd\"\/>\n  <text x=\"150\" y=\"60\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">Chromosome 8<\/text>\n  <text x=\"150\" y=\"105\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Long arm (q)<\/text>\n  <rect x=\"110\" y=\"120\" width=\"80\" height=\"24\" rx=\"6\" fill=\"#e8608a\"\/>\n  <text x=\"150\" y=\"137\" text-anchor=\"middle\" font-size=\"13\" fill=\"#ffffff\">q12<\/text>\n  <text x=\"150\" y=\"200\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Short arm (p)<\/text>\n  <text x=\"300\" y=\"145\" text-anchor=\"middle\" font-size=\"26\" fill=\"#9a6070\">\u2192<\/text>\n  <rect x=\"360\" y=\"70\" width=\"120\" height=\"150\" rx=\"14\" fill=\"#fbe1eb\"\/>\n  <text x=\"420\" y=\"60\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">Part is duplicated<\/text>\n  <rect x=\"380\" y=\"105\" width=\"80\" height=\"20\" rx=\"6\" fill=\"#ffffff\" stroke=\"#e8608a\" stroke-dasharray=\"4 3\"\/>\n  <text x=\"420\" y=\"119\" text-anchor=\"middle\" font-size=\"11\" fill=\"#9a6070\">q12 (copy 1)<\/text>\n  <rect x=\"380\" y=\"130\" width=\"80\" height=\"20\" rx=\"6\" fill=\"#ffffff\" stroke=\"#e8608a\" stroke-dasharray=\"4 3\"\/>\n  <text x=\"420\" y=\"144\" text-anchor=\"middle\" font-size=\"11\" fill=\"#9a6070\">q12 (copy 2)<\/text>\n  <text x=\"600\" y=\"130\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">Can affect development,<\/text>\n  <text x=\"600\" y=\"155\" text-anchor=\"middle\" font-size=\"15\" fill=\"#5a2b3a\">heart, eyes, and ears<\/text>\n<\/svg>\n<figcaption>Illustration of an extra copy of part of the q12 region on the long arm of chromosome 8<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"How_Rare_Is_This_Condition\"><\/span><strong>How Rare Is This Condition?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>8q12 microduplication syndrome is an extremely rare condition, with international case reports only beginning in the late 2000s. Very few cases have been described in the world medical literature, and the exact frequency within Japan is not known. This scarcity of information is exactly why so many families feel anxious and struggle to find reliable answers.<\/p>\n\n\n\n<p>Chromosomal microdeletions and microduplications come in many types, and both the name and the symptoms depend on exactly where on the chromosome the change occurs. For a broader look at how microdeletions and microduplications are approached and tested for, see our article on <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/?lang=en\">the hidden risks of chromosomal microdeletions and how NIPT relates to them<\/a>. Understanding the bigger picture can help you process new information more calmly. Changes on the short-arm side of the same chromosome 8 are covered separately in our article on <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8p23-1-deletion-syndrome\/?lang=en\">conditions related to the 8p23.1 region<\/a>.<\/p>\n\n\n\n    <a href=\"\/nipt\/8p23-1-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">8p23.1\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">8p23.1\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bBLK\u3001GATA4\u3001FDFT1\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u8d77\u3053\u3059\u7a00\u5c11\u75be\u60a3\u3067\u3042\u308bMODY\uff08\u5bb6\u65cf\u6027\u82e5\u5e74\u7cd6\u5c3f\u75c5\uff09\u3001CDH\uff08\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Cause_of_the_Condition_and_the_Role_of_the_CHD7_Gene\"><\/span>Cause of the Condition and the Role of the CHD7 Gene<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>The leading candidate cause of 8q12 microduplication syndrome is an increase in the copy number (gene dosage) of the CHD7 gene, which lies within the duplicated region.<\/strong> The CHD7 gene plays a role in the development of several organs, including the ears, heart, and face. When this gene loses its function \u2014 for example, through an inactivating mutation or a deletion \u2014 it causes a separate condition called CHARGE syndrome, which can affect hearing, vision, the heart, and growth across many organ systems.<\/p>\n\n\n\n<p>8q12 microduplication syndrome, by contrast, arises not from the CHD7 gene being &#8220;lost&#8221; but from it being present in an &#8220;extra&#8221; copy. Even though the same gene is involved, having too much of it produces a different clinical picture than losing it. The medical literature reports that patients with 8q12 microduplication do not show the facial features typical of CHARGE syndrome and do not meet its diagnostic criteria. It is important to understand this as a separate condition that shares a connection to CHD7, rather than as CHARGE syndrome itself.<\/p>\n\n\n\n<p>Most reported cases are not inherited from either parent but instead arise from a new genetic change (a de novo mutation) occurring during the formation of the egg or sperm, or very early after fertilization. In one case report, chromosome testing confirmed both parents had no balanced translocation, and the duplication was shown to be a de novo change of paternal origin. In other words, nothing about how the parents raised the child or how the pregnancy was managed caused this. This is an important fact for families to know, so they don&#8217;t blame themselves.<\/p>\n\n\n\n<p>Whether other family members carry the same change is sometimes only clarified through testing. If you want to understand the likelihood for a future pregnancy, genetic counseling can help organize your family history and give you a clearer picture. A duplication involving a different chromosome, arising through a similar mechanism, is discussed in our article on <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/3q26_microduplication_syndrome\/?lang=en\">3q26 microduplication syndrome<\/a>. The chromosomal location differs and so do the specific features, but the underlying logic around cause and testing has much in common.<\/p>\n\n\n\n    <a href=\"\/nipt\/3q26_microduplication_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">3q26\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">3q26\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f533\u756a\u306e\u9577\u815526\u9818\u57df\u306e\u91cd\u8907\u306b\u3088\u308a\u767a\u751f\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3084\u884c\u52d5\u554f\u984c\u304c\u7279\u5fb4\u3067\u3001\u500b\u5225\u652f\u63f4\u3084\u533b\u7642\u7ba1\u7406\u304c\u751f\u6d3b\u306e...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Main_Symptoms_and_Physical_Features\"><\/span>Main Symptoms and Physical Features<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>8q12 microduplication syndrome can involve developmental delay, low muscle tone, distinctive facial features, heart defects, restricted eye movement known as Duane syndrome, and sensorineural hearing loss.<\/strong> Not every child has every symptom. How the condition presents varies from person to person, depending on the size of the duplication and which genes are included.<\/p>\n\n\n\n<p>The diagram below organizes the main symptoms that have been observed. This is only a list of things that can occur \u2014 it doesn&#8217;t mean a child will have all of them. Use it as a way to compare notes with your child&#8217;s characteristics and share anything that stands out with your doctor.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"Diagram organizing the main symptoms that can occur in 8q12 microduplication syndrome into four categories: development, eyes and ears, heart, and digestive system\" viewBox=\"0 0 720 300\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"300\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"38\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">Main Symptoms That Can Occur<\/text>\n  <rect x=\"40\" y=\"60\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"195\" y=\"92\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">Development &amp; muscle tone<\/text>\n  <text x=\"195\" y=\"120\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Developmental \/ intellectual delay<\/text>\n  <text x=\"195\" y=\"142\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Low muscle tone in infancy<\/text>\n  <rect x=\"370\" y=\"60\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"525\" y=\"92\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">Eyes &amp; ears<\/text>\n  <text x=\"525\" y=\"120\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Duane syndrome (eye movement)<\/text>\n  <text x=\"525\" y=\"142\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Sensorineural hearing loss<\/text>\n  <rect x=\"40\" y=\"175\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"195\" y=\"207\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">Heart<\/text>\n  <text x=\"195\" y=\"235\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Atrial \/ ventricular septal defects<\/text>\n  <text x=\"195\" y=\"257\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Distinctive facial features<\/text>\n  <rect x=\"370\" y=\"175\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"525\" y=\"207\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">Digestive &amp; other<\/text>\n  <text x=\"525\" y=\"235\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Feeding difficulties<\/text>\n  <text x=\"525\" y=\"257\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Constipation, attention-related traits<\/text>\n<\/svg>\n<figcaption>Overview of the main symptoms that can occur in 8q12 microduplication syndrome<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Developmental_Delay_and_Low_Muscle_Tone\"><\/span><strong>Developmental Delay and Low Muscle Tone<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>The most commonly noticed features are low muscle tone in infancy (a &#8220;floppy&#8221; feel to the body) followed by a slower pace of development overall. Head control, walking, and first words may all arrive later than typical. The degree of impact on intellectual development varies widely, ranging from mild difficulties to a greater need for support. Recognizing this early allows support to begin sooner.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Eye_and_Ear_Features_Including_Duane_Syndrome\"><\/span><strong>Eye and Ear Features, Including Duane Syndrome<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Many reported cases show &#8220;Duane syndrome&#8221; (Duane retraction syndrome), a condition in which one or both eyes cannot move fully outward. Sensorineural hearing loss, related to how the inner ear processes sound, can also occur alongside it. Because some of these changes are not obvious just by looking, infant health checkups or specialist evaluations are often what lead to a diagnosis.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Heart_Defects_and_Facial_Features\"><\/span><strong>Heart Defects and Facial Features<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Congenital heart defects involving small holes remaining in the atrial or ventricular septum have been reported. Distinctive facial features \u2014 such as fuller cheeks, outward-sweeping eyebrows, a flatter nasal bridge, or a longer philtrum (the groove between the nose and upper lip) \u2014 can also occur, but these are only one clue among several, not a diagnosis on their own. Because heart defects are not visible from the outside, regular monitoring with tests such as echocardiography is important. Catching and managing these issues early is the most direct way to protect your child&#8217;s health.<\/p>\n\n\n\n<p>Many families start thinking about developmental delay as early as pregnancy. For a broader look at how to think about this during pregnancy, see our article on <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disability-risk-pregnancy\/\">intellectual disability and pregnancy risk<\/a> (Japanese). Accurate information can ease unnecessary worry.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Diagnosis_and_How_NIPT_Relates_to_Definitive_Testing\"><\/span>Diagnosis, and How NIPT Relates to Definitive Testing<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>8q12 microduplication syndrome is confirmed through a chromosomal microarray test, which examines the duplicated region in fine detail.<\/strong> This test can detect small duplications or deletions with much higher resolution than a standard karyotype (chromosome) test. In fact, in reported cases, a standard chromosome test came back normal, and the duplication was only found once a chromosomal microarray was performed. Testing is often recommended by a pediatrician or specialist after developmental delay or a heart defect is noticed.<\/p>\n\n\n\n<p>Here it helps to clarify how this relates to testing done during pregnancy. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (noninvasive prenatal testing) analyzes cell-free DNA circulating in the mother&#8217;s blood (fragments of fetal-derived DNA). It is a non-diagnostic screening test that mainly targets trisomies 13, 18, and 21, and it does not, on its own, provide a definitive diagnosis.<\/p>\n\n\n\n<p><strong>Microduplications such as 8q12 are not covered by standard <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, and even expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> panels that screen all chromosomes cover only a limited set of deletion and duplication regions.<\/strong> Extremely rare duplicated regions are not necessarily included individually, and coverage varies by clinic and testing plan. Even if an expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> panel suggests a possible duplication, that result only indicates a possibility. A definitive diagnosis requires chromosomal microarray analysis performed on cells obtained through amniocentesis or chorionic villus sampling.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"Diagram showing that NIPT is a non-diagnostic screening test that generally does not cover microduplications, and that a definitive diagnosis requires amniocentesis or chorionic villus sampling combined with chromosomal microarray analysis\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"38\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">Where Each Test Fits<\/text>\n  <rect x=\"40\" y=\"65\" width=\"300\" height=\"150\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"190\" y=\"98\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">Screening test<\/text>\n  <text x=\"190\" y=\"128\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (blood-based)<\/text>\n  <text x=\"190\" y=\"152\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">Microduplications generally not covered<\/text>\n  <text x=\"190\" y=\"174\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">Even expanded panels cover a limited set<\/text>\n  <text x=\"190\" y=\"196\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">Shows only a possibility<\/text>\n  <text x=\"360\" y=\"145\" text-anchor=\"middle\" font-size=\"24\" fill=\"#9a6070\">\u2192<\/text>\n  <rect x=\"380\" y=\"65\" width=\"300\" height=\"150\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"530\" y=\"98\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">Definitive diagnosis<\/text>\n  <text x=\"530\" y=\"128\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">Amniocentesis \/ CVS<\/text>\n  <text x=\"530\" y=\"152\" text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">+ chromosomal microarray<\/text>\n  <text x=\"530\" y=\"182\" text-anchor=\"middle\" font-size=\"13\" fill=\"#9a6070\">Confirms the extent of duplication<\/text>\n<\/svg>\n<figcaption>How a non-diagnostic screening test like <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> differs from a definitive diagnosis<\/figcaption>\n<\/figure>\n\n\n\n<p>The table below summarizes what each test is and isn&#8217;t. It&#8217;s written to make sense on its own. Knowing what each test can and can&#8217;t tell you makes it easier to receive results calmly, without being thrown off balance.<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>Test<\/th><th>How it&#8217;s done<\/th><th>Category<\/th><th>Coverage for microduplications<\/th><\/tr><\/thead><tbody><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><\/td><td>Maternal blood sample<\/td><td>Non-diagnostic screening test<\/td><td>Generally not covered; even expanded panels cover a limited set of regions<\/td><\/tr><tr><td>Chorionic villus sampling (CVS)<\/td><td>Sampling placental tissue<\/td><td>Diagnostic test (early pregnancy)<\/td><td>Microarray analysis possible on sampled cells<\/td><\/tr><tr><td>Amniocentesis<\/td><td>Sampling amniotic fluid<\/td><td>Diagnostic test (mid-pregnancy)<\/td><td>Microarray analysis possible on sampled cells<\/td><\/tr><tr><td>Chromosomal microarray<\/td><td>Analyzing DNA from cells<\/td><td>Used to confirm microduplications<\/td><td>Determines the precise extent of the duplication<\/td><\/tr><\/tbody><\/table><figcaption>Comparing <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> with definitive diagnostic tests and chromosomal microarray analysis<\/figcaption><\/figure>\n\n\n\n<p>Diagnostic tests carry a small risk of miscarriage. As a general guide, this is reported to be around 0.3% for amniocentesis and around 1% for chorionic villus sampling. Whether to proceed is entirely your own decision. If you&#8217;re unsure, our article on <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/?lang=en\">what amniocentesis involves<\/a> can help you weigh the details, alongside a conversation through genetic counseling. Our article on <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/?lang=en\">what NIPT can and cannot detect<\/a> is also a useful reference.<\/p>\n\n\n\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">Book Your Hiro Clinic NIPT Appointment<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Developmental_Therapy_and_Medical_Management\"><\/span>Developmental Therapy and Medical Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>There is no treatment that reverses the duplication itself in 8q12 microduplication syndrome, but combining developmental therapy with coordinated, multidisciplinary medical management can meaningfully support your child&#8217;s development and quality of life.<\/strong> What matters most is tailoring support to each individual symptom and continuing it from an early stage.<\/p>\n\n\n\n<p>On the developmental side, the core supports are physical therapy to build motor skills, occupational therapy for fine motor and daily-living skills, and speech therapy to build language and communication. When feeding difficulties are present, support from a dietitian and speech-language pathologist working together with feeding and mealtimes can help.<\/p>\n\n\n\n<p>When a heart defect is present, a pediatric cardiologist is involved; for Duane syndrome, an ophthalmologist; and for hearing loss, an ENT specialist and hearing professionals \u2014 with multiple specialists coordinating regular check-ups. Heart and hearing issues can be easy to miss on the surface. That&#8217;s exactly why keeping up with scheduled tests to make these issues visible forms the foundation for protecting your child&#8217;s health. In the consultations I&#8217;ve been part of, families who connect with multidisciplinary care early on tend to find it easier to plan for what&#8217;s ahead.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24516327_s.jpg\" alt=\"Illustration of a parent supporting their child, representing how developmental therapy and coordinated medical care support daily life\" class=\"wp-image-87847\"\/><\/figure>\n\n\n\n<p>Developmental therapy isn&#8217;t always something &#8220;special.&#8221; Everyday moments \u2014 mealtimes, getting dressed, play \u2014 are full of opportunities to encourage development. Working with specialists to build small, individualized adjustments over time may look modest, but it&#8217;s one of the most reliable forms of support there is.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Support_for_Families_and_Where_to_Seek_Help\"><\/span>Support for Families and Where to Seek Help<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>Long-term developmental therapy and medical management come with real psychological and financial burdens for families, so it helps enormously to know about public support programs and counseling resources early on.<\/strong> You don&#8217;t have to manage this alone \u2014 connecting with available programs and other families gives you strength to keep going.<\/p>\n\n\n\n<p>Rare conditions often come with limited information, which can feel isolating. In Japan, the <a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">Center for Intractable Disease Information<\/a> is a helpful entry point for government resources on rare diseases, and the <a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">National Rehabilitation Center for Persons with Disabilities&#8217; Developmental Disorders Information and Support Center<\/a> is useful for developmental information. Because the number of patients in Japan with 8q12 microduplication syndrome is extremely small, the <a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/12816\/8q12-microduplication-syndrome\" target=\"_blank\" rel=\"noopener\">U.S. National Institutes of Health&#8217;s Genetic and Rare Diseases Information Center (GARD)<\/a>, compiled by international research institutions, is also a useful reference for understanding the overall picture of symptoms and research. Starting with reliable information is a steady first step forward.<\/p>\n\n\n\n<p>If you&#8217;re uncertain about diagnosis or testing during pregnancy, having a place to speak directly with a specialist is reassuring. Japan&#8217;s <a href=\"https:\/\/jams-prenatal.jp\/\" target=\"_blank\" rel=\"noopener\">Committee for the Certification System for Prenatal Testing<\/a> also offers information on prenatal testing. Local public health centers and developmental support centers are accessible places to turn to as well.<\/p>\n\n\n\n<p>Connecting with families in a similar situation can also be a source of support. Family and patient associations can share practical, experience-based wisdom \u2014 everyday tips and how to navigate support systems. Combining public programs, medical care, and community connections lets you move forward at a pace that works for you.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Thinking_Through_Prenatal_Testing\"><\/span>Thinking Through Prenatal Testing<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>There is no single right answer about whether to have prenatal testing \u2014 choosing to test and choosing not to are both valid, personal decisions for your family.<\/strong> Feeling anxious about results, or going back and forth right up until the last moment, is a natural response that comes from caring deeply about your baby.<\/p>\n\n\n\n<p>In consultations, I&#8217;ve repeatedly heard people wrestle with &#8220;should I get tested, and how do I cope afterward.&#8221; On X (formerly Twitter), a Japanese user, <a href=\"https:\/\/x.com\/chiisunmon\" target=\"_blank\" rel=\"noopener\">@chiisunmon<\/a>, described genuinely hesitating over whether to have <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, but ultimately deciding with her husband to have the test without first deciding what they&#8217;d do if the result came back positive \u2014 choosing instead to think it through if and when that moment came. It&#8217;s a good reminder that you don&#8217;t have to decide everything in advance before testing.<\/p>\n\n\n\n<p>It&#8217;s also worth knowing that policies can differ between testing facilities. Another Japanese X user, <a href=\"https:\/\/x.com\/okupanxc4o\" target=\"_blank\" rel=\"noopener\">@okupanxc4o<\/a>, shared that after genetic counseling at her obstetric hospital, she learned that having <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> at an unaccredited clinic could mean not being referred for amniocentesis afterward, and that accuracy differs slightly between accredited and unaccredited facilities \u2014 which led her to reconsider where to get tested. When you&#8217;re unsure which facility to choose, working through your questions one by one in genetic counseling can really help.<\/p>\n\n\n\n<p>If you&#8217;re torn, try working through it with a specialist in genetic counseling. What a test can and can&#8217;t tell you, and how you want to process the results \u2014 talking it through helps clarify your own feelings. Please don&#8217;t face difficult topics like termination or miscarriage alone; lean on the support of a specialist.<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=en\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">Get Free Pregnancy Support via LINE<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Frequently_Asked_Questions\"><\/span>Frequently Asked Questions<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_Is_8q12_microduplication_syndrome_inherited_from_a_parent\"><\/span><strong>Q. Is 8q12 microduplication syndrome inherited from a parent?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Most reported cases arise from a new (de novo) genetic change, not from anything the parents did or how the pregnancy was managed. If you&#8217;d like to understand your family&#8217;s situation or the likelihood for a future pregnancy, genetic counseling can help organize your family history and clarify the picture.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_Is_this_the_same_condition_as_CHARGE_syndrome\"><\/span><strong>Q. Is this the same condition as CHARGE syndrome?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>No, it is not the same condition. Both involve the CHD7 gene, but CHARGE syndrome results from the CHD7 gene losing function (such as through a deletion), while 8q12 microduplication syndrome results from a region containing the CHD7 gene being duplicated into an extra copy \u2014 a distinct condition. Reported patients with 8q12 microduplication do not show the facial features typical of CHARGE syndrome and do not meet its diagnostic criteria.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_What_symptoms_can_occur\"><\/span><strong>Q. What symptoms can occur?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Developmental delay, low muscle tone in infancy, distinctive facial features, heart defects, restricted eye movement known as Duane syndrome, and sensorineural hearing loss can all occur. However, how these present differs from child to child depending on the extent of the duplication, and not every symptom will be present. If you notice anything concerning, please share it with your child&#8217;s doctor.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_Can_NIPT_detect_this_duplication\"><\/span><strong>Q. Can NIPT detect this duplication?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Microduplications like 8q12 are not covered by standard <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>. Even expanded <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> panels that screen all chromosomes cover only a limited set of duplication and deletion regions, and extremely rare regions are not necessarily included individually. Because <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> is a non-diagnostic screening test, its results only indicate a possibility. A definitive diagnosis requires amniocentesis or chorionic villus sampling combined with chromosomal microarray analysis.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_How_is_a_definitive_diagnosis_made\"><\/span><strong>Q. How is a definitive diagnosis made?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Diagnosis is confirmed with a chromosomal microarray test that examines the duplicated region in detail. Before birth, this is done using cells obtained through amniocentesis or chorionic villus sampling. Because diagnostic tests carry a small risk of miscarriage, whether to proceed should be a personal decision made after discussion in genetic counseling.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_Is_there_treatment_and_where_can_families_turn_for_support\"><\/span><strong>Q. Is there treatment, and where can families turn for support?<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>There is no treatment that reverses the duplication itself, but combining developmental therapies \u2014 physical, occupational, and speech therapy \u2014 with coordinated medical management across the heart, eyes, and ears can support development and quality of life. For support, public resources such as the Center for Intractable Disease Information and the Developmental Disorders Information and Support Center, along with local public health centers, developmental support centers, and family or patient associations, can all help. Please don&#8217;t manage this alone \u2014 draw on public programs, medical care, and community connections together.<\/p>\n\n\n\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">Author &amp; Medical Supervision<\/p>\n<p style=\"margin:0;\">Dr. Hiroshi Oka \u2014 Director-in-Chief and Lab Director, Hiro Clinic (Fukumikai Medical Corporation). A graduate of Keio University School of Medicine, Dr. Oka holds a Ph.D. in Medicine and has passed the national medical licensing examinations of both Japan and the United States. He is one of roughly 20 physicians in Japan to hold laboratory director credentials. He shares evidence-based information on pregnancy and prenatal testing through channels such as his YouTube series &#8220;Dr. Hiroshi&#8217;s Evidence-Based Pregnancy Channel.&#8221;<\/p>\n<\/div>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\"@type\":\"Question\",\"name\":\"Is 8q12 microduplication syndrome inherited from a parent?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"Most reported cases arise from a new (de novo) genetic change, not from anything the parents did or how the pregnancy was managed. If you'd like to understand your family's situation or the likelihood for a future pregnancy, genetic counseling can help organize your family history and clarify the picture.\"}},\n    {\"@type\":\"Question\",\"name\":\"Is this the same condition as CHARGE syndrome?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"No, it is not the same condition. 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If you notice anything concerning, please share it with your child's doctor.\"}},\n    {\"@type\":\"Question\",\"name\":\"Can NIPT detect this duplication?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"Microduplications like 8q12 are not covered by standard NIPT. Even expanded NIPT panels that screen all chromosomes cover only a limited set of duplication and deletion regions, and extremely rare regions are not necessarily included individually. Because NIPT is a non-diagnostic screening test, its results only indicate a possibility. A definitive diagnosis requires amniocentesis or chorionic villus sampling combined with chromosomal microarray analysis.\"}},\n    {\"@type\":\"Question\",\"name\":\"How is a definitive diagnosis made?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"Diagnosis is confirmed with a chromosomal microarray test that examines the duplicated region in detail. Before birth, this is done using cells obtained through amniocentesis or chorionic villus sampling. Because diagnostic tests carry a small risk of miscarriage, whether to proceed should be a personal decision made after discussion in genetic counseling.\"}},\n    {\"@type\":\"Question\",\"name\":\"Is there treatment, and where can families turn for support?\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"There is no treatment that reverses the duplication itself, but combining developmental therapies \u2014 physical, occupational, and speech therapy \u2014 with coordinated medical management across the heart, eyes, and ears can support development and quality of life. For support, public resources such as the Center for Intractable Disease Information and the Developmental Disorders Information and Support Center, along with local public health centers, developmental support centers, and family or patient associations, can all help. Please don't manage this alone \u2014 draw on public programs, medical care, and community connections together.\"}}\n  ]\n}\n<\/script>\n\n","protected":false},"excerpt":{"rendered":"Summary of This Arti&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/8q12-microduplication-syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":101,"featured_media":87846,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-85416","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85416","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/101"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=85416"}],"version-history":[{"count":13,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85416\/revisions"}],"predecessor-version":[{"id":133721,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85416\/revisions\/133721"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/87846"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85416"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85416"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85416"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}