{"id":37877,"date":"2022-08-02T16:52:13","date_gmt":"2022-08-02T07:52:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/"},"modified":"2026-07-23T16:18:53","modified_gmt":"2026-07-23T07:18:53","slug":"microdeletion-syndrome","status":"publish","type":"page","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=en","title":{"rendered":"7 Microdeletion and Duplication Syndromes Associated with Intellectual Disability"},"content":{"rendered":"\n<div class=\"comic\">\n<img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/04\/comic-001.jpg\" alt=\"\u5fae\u5c0f\u6b20\u5931\u6f2b\u753b\" class=\"comic\">\n<style>\n.comic{\n  text-align: center;\n}\n.comic img{\n  width: 60%;\n}\n@media screen and (max-width:770px){\n .comic img{\n   width: 100%;\n }\n}\n<\/style>\n\n\n\n\n\n<div class=\"banner-box\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=en\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/07\/de-banner-en.webp\" alt=\"\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u691c\u67fb\u5b9f\u7e3e!!\u9ad8\u7cbe\u5ea6\u3067\u967d\u6027\u5224\u5b9a\"><\/a>\n<\/div>\n<style>\n  .banner-box{\n    text-align: center;\n  }\n  .banner-box img{\n    width: 100%;\n  }\n  <\/style>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n  <p class=\"jisseki mincho\">Our NIPT Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n<p class=\"jisseki font-s gothic\">Our NIPT Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/20th-anniversary\/?lang=en\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n\n\n\n<section class=\"microdeletion-syndrome-box\">\n<h2 class=\"wp-block-heading\">What Are Microdeletion and Microduplication Syndromes (Designated Intractable Diseases)?<\/h2>\n<p>Microdeletion and microduplication syndromes are genetic conditions caused by the <strong>deletion or duplication of genes at specific locations on a chromosome<\/strong>.<\/p>\n<p>As the term &#8220;micro&#8221; suggests, these alterations are small in size, with some spanning as few as 500,000 base pairs. Typically, they are said to result from the loss or gain of sequences ranging from 500,000 to 3,000,000 base pairs. Depending on the size and precise location of the variant, it can lead to a diverse spectrum of clinical symptoms and varying levels of severity, often accompanied by developmental delays such as intellectual disabilities. Furthermore, the vast majority of microdeletion and microduplication syndromes occur sporadically (<i>de novo<\/i>) and are widely recognized to arise independently of maternal age.<\/p>\n<p>Consequently, it cannot be definitively claimed that screening for these conditions is without clinical value, regardless of whether the pregnant individual is young or of advanced maternal age.<\/p>\n<\/section>\n\n\n\n<section class=\"microdeletion-syndrome-box\">\n\n<h3>What is the Highly Frequent DiGeorge Syndrome (Designated Intractable Disease 203)?<\/h3>\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases\/digeorge-syndrome\/?lang=en\">DiGeorge Syndrome (Designated Intractable Disease 203)<\/a> is a genetic condition caused by a deletion in a specific region of chromosome 22. This syndrome is known to cause a wide range of manifestations, including immune system problems, heart defects, and characteristic facial differences. Although it is a relatively rare condition, it can have serious implications for affected individuals and their families.<\/p>\n\n<h4>Detection Track Record via Hiro Clinic&#8217;s NIPT Screenings<\/h4>\n<p>From 3,322 screenings conducted at Hiro Clinic, 5 cases of genetic abnormalities associated with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases\/digeorge-syndrome\/?lang=en\">DiGeorge Syndrome<\/a> were identified. This frequency\u2014approximately 1 in 600 cases\u2014is significantly higher than the general epidemiological data of 1 in 4,000 to 6,000 individuals, demonstrating the high detection capability of DiGeorge Syndrome (Designated Intractable Disease No. 203). This outcome strongly supports Hiro Clinic\u2019s advocacy for the clinical importance of microdeletion and microduplication screening. Particularly for pregnant individuals and families considered to be at a higher genetic risk, this screening provides vital information that enables early intervention and preparation.<\/p>\n<\/section>\n\n\n\n<section class=\"microdeletion-syndrome-box\">\n<h3 class=\"wp-block-heading\">Microdeletion and Microduplication Syndromes Screenable via Hiro Clinic NIPT<\/h3>\n<p>In terms of the population currently living with the condition, DiGeorge Syndrome (Designated Intractable Disease 203) is said to be the <strong>second most common after Down syndrome<\/strong>. This is thought to be correlated with its relatively favorable life prognosis. Including DiGeorge syndrome, Hiro Clinic <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can screen for a total of 143 types of microdeletion and microduplication syndromes. All testing procedures are conducted domestically within Japan.<\/p>\n\n<figure class=\"scroll\">\n<table>\n<tr><th>Condition Name<\/th><td><a rel=\"noreferrer noopener\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases\/digeorge-syndrome\/?lang=en\" target=\"_blank\">DiGeorge<span style=\"white-space:nowrap\"> Syndrome<\/span><\/a><\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases\/1p36-deletion-syndrome\/?lang=en\" target=\"_blank\" rel=\"noopener\">1p36 Deletion<span style=\"white-space:nowrap\"> Syndrome<\/span><\/a><\/td><td><a rel=\"noreferrer noopener\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases\/smith-magenis-syndrome\/?lang=en\" target=\"_blank\">Smith-Magenis<span style=\"white-space:nowrap\"> Syndrome<\/span><\/a><\/td><td><a rel=\"noreferrer noopener\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases\/wolf-hirschhorn-syndrome\/?lang=en\" target=\"_blank\">Wolf-Hirschhorn<span style=\"white-space:nowrap\"> Syndrome<\/span><\/a><\/td><td><a rel=\"noreferrer noopener\" href=\"https:\/\/nipt-bgi-wp.hiro-test.net\/nipt\/cri_du_chat\/\" target=\"_blank\"><span style=\"white-space:nowrap\">Cri-du-Chat<\/span><span style=\"white-space:nowrap\"> Syndrome<\/span><br><span style=\"white-space:nowrap\">(Cat Cry Syndrome)<\/span><\/a><\/td><td><a rel=\"noreferrer noopener\" href=\"https:\/\/nipt-bgi-wp.hiro-test.net\/nipt\/prader_willi\/\" target=\"_blank\"><span style=\"white-space:nowrap\">Prader-Willi<\/span><span style=\"white-space:nowrap\"> Syndrome<\/span><\/a><\/td><td><a rel=\"noreferrer noopener\" href=\"https:\/\/nipt-bgi-wp.hiro-test.net\/nipt\/prader_willi\/\" target=\"_blank\"><span style=\"white-space:nowrap\">Angelman<\/span><span style=\"white-space:nowrap\"> Syndrome<\/span><\/a><\/td><\/tr>\n<tr><th>Affected<span style=\"white-space:nowrap\"> Region<\/span><\/th><td>22q11.2<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a><\/td><td>17p11.2<\/td><td>4p16.3<\/td><td>5p-<\/td><td>15q11.2<\/td><td>15q11.2<\/td><\/tr>\n<tr><th>Maximum<span style=\"white-space:nowrap\"> Frequency<\/span><\/th><td>1\/2000<\/td><td>1\/5000<\/td><td>1\/15000<\/td><td>1\/50000<\/td><td>1\/15000<\/td><td>1\/10000<\/td><td>1\/12000<\/td><\/tr>\n<tr><th>Minimum<span style=\"white-space:nowrap\"> Frequency<\/span><\/th><td>1\/6000<\/td><td>1\/10000<\/td><td>1\/25000<\/td><td>1\/96000<\/td><td>1\/50000<\/td><td>1\/15000<\/td><td>1\/20000<\/td><\/tr>\n<\/table>\n<\/figure>\n<\/section>\n\n\n\n<section class=\"microdeletion-syndrome-box\" id=\"microdeletion-syndrome-box\">\n<h3>Screening Track Record at Hiro Clinic<\/h3>\n<p>Hiro Clinic, which has performed over 75,000 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (Non-Invasive Prenatal Testing) procedures (*1) to date, has conducted microdeletion and microduplication syndrome screening for 4,543 individuals (*2).<\/p>\n<p>Out of these 4,543 individuals, 1 person received a definitive positive screening result for DiGeorge syndrome, which was subsequently confirmed as a true positive via invasive diagnostic testing. Additionally, among 5 individuals whose results were initially classified as uninformative (inconclusive), 2 underwent amniocentesis; consequently, 1 case of 22q11.2 duplication and 1 case of Emanuel syndrome were detected. The case diagnosed as Emanuel syndrome returned an amniocentesis karyotype of 47,XY,+der(22)t(11;22)(q23.3;q11.2), an abnormality involving a reciprocal translocation between position q23.3 on chromosome 11 and position q11.2 on chromosome 22. Although the targeted DiGeorge screening is designed to detect microdeletions at the 22q11.2 locus, the chromosomal displacement at this exact site triggered an abnormal flag. This demonstrates that Hiro Clinic&#8217;s <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> screening can detect structural variations related to duplications and translocations, not just microdeletions. No follow-up reports were received for the remaining 3 uninformative cases. Furthermore, out of 5 cases classified as highly likely to be positive (borderline results), 2 were subsequently confirmed negative via amniocentesis, while the remaining 3 did not undergo amniocentesis.<\/p>\n<p>DiGeorge syndrome is a condition caused by a microdeletion on chromosome 22, with an estimated prevalence of approximately 1 in 4,000 to 6,000 individuals in the general population. Through microdeletion and microduplication screening, aberrations localized within the same targeted chromosomal regions may also be discovered. Thus far, at least 3 out of 4,543 individuals have had deletions or duplications in the 22q11.2 region confirmed via invasive diagnostic testing. The following table will be updated as soon as follow-up data from individuals who have not yet undergone invasive testing becomes available.<\/p>\n\n<table class=\"table-table\">\n    <tbody>\n        <tr>\n            <th><\/th>\n            <th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Result<\/th>\n            <th>Amniocentesis <span class=\"red_moji\">Positive<\/span><\/th>\n            <th>Amniocentesis <span class=\"red_moji\">Negative<\/span><\/th>\n            <th>Not Performed \/ Unreported<\/th>\n        <\/tr>\n        <tr>\n            <th>Positive<\/th>\n            <td>1<\/td>\n            <td>1<\/td>\n            <td>0<\/td>\n            <td>0<\/td>\n        <\/tr>\n        <tr>\n            <th>Highly Likely Positive<\/th>\n            <td>6<\/td>\n            <td>0<\/td>\n            <td>2<\/td>\n            <td>4<\/td>\n        <\/tr>\n        <tr>\n            <th>Uninformative<\/th>\n            <td>5<\/td>\n            <td>2<\/td>\n            <td>0<\/td>\n            <td>3<\/td>\n        <\/tr>\n    <\/tbody>\n<\/table>\n<div>Total Sample Size: 4,543 cases<\/div>\n<\/section>\n\n<style>\n    .red_moji{\n        color: red;\n    }\n    .table-table {\n        width: 100%;\n        text-align-last: center;\n        border: solid 2px #f67691;\n        border-spacing: 0px;\n    }\n    .table-table th,\n    .table-table td {\n        border: solid 1px #f67691;\n    }    \n    @media screen and (max-width: 700px){\n\n    }\n    @media screen and (min-width: 701px){\n        .sp-only{\n            display: none;\n        }\n    }\n<\/style>\n\n\n\n<p>All of these 1,391 cases include screening for microdeletion and microduplication syndromes.<\/p>\n\n\n\n<table>\n  <thead>\n    <tr>\n      <th><\/th>\n      <th>DiGeorge Syndrome<\/th>\n      <th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> Deletion Syndrome<\/th>\n      <th>Cri-du-Chat Syndrome<\/th>\n      <th>Wolf-Hirschhorn Syndrome<\/th>\n      <th>Angelman Syndrome<\/th>\n    <\/tr>\n  <\/thead>\n  <tbody>\n    <tr>\n      <th>Number of Positives<\/th>\n      <td>0 cases<\/td>\n      <td>0 cases<\/td>\n      <td>0 cases<\/td>\n      <td>0 cases<\/td>\n      <td>0 cases<\/td>\n    <\/tr>\n  <\/tbody>\n<\/table>\n<div>Total Sample Size: 1,391 cases<\/div>\n\n\n\n<style>\n  .custom-table-container {\n    font-family: -apple-system, BlinkMacSystemFont, \"Segoe UI\", Roboto, \"Helvetica Neue\", Arial, sans-serif;\n    color: #000000;\n    max-width: 900px;\n    margin: 20px 0;\n  }\n\n  .custom-table {\n    width: 100%;\n    border-collapse: collapse;\n    border: 1.5px solid #000000;\n    text-align: left;\n  }\n\n  .custom-table th,\n  .custom-table td {\n    border: 1.5px solid #000000;\n    padding: 12px 14px;\n    font-size: 15px;\n    line-height: 1.4;\n    vertical-align: middle;\n  }\n\n  .custom-table th {\n    font-weight: bold;\n    background-color: #ffffff;\n  }\n\n  .custom-table .row-header {\n    font-weight: normal;\n    white-space: nowrap;\n    width: 1%;\n  }\n\n  .total-count {\n    margin-top: 8px;\n    font-size: 16px;\n    color: #000000;\n  }\n<\/style>\n\n<div class=\"custom-table-container\">\n  <table class=\"custom-table\">\n    <thead>\n      <tr>\n        <th><\/th>\n        <th>DiGeorge<br>Syndrome<\/th>\n        <th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> Deletion<br>Syndrome<\/th>\n        <th>Cri du Chat<br>Syndrome<\/th>\n        <th>Wolf-Hirschhorn<br>Syndrome<\/th>\n        <th>Angelman<br>Syndrome<\/th>\n      <\/tr>\n    <\/thead>\n    <tbody>\n      <tr>\n        <td class=\"row-header\">Number of Positive Cases<\/td>\n        <td>0 cases<\/td>\n        <td>0 cases<\/td>\n        <td>0 cases<\/td>\n        <td>0 cases<\/td>\n        <td>0 cases<\/td>\n      <\/tr>\n    <\/tbody>\n  <\/table>\n  <div class=\"total-count\">\n    Total Cases: 1,391 cases\n  <\/div>\n<\/div>\n\n\n\n<p><br><strong>Since approximately 43% of pregnant women have a fetal fraction (FF) of 10% or lower, performing microdeletion screening for DiGeorge syndrome carries a high risk of false negatives.<\/strong><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"810\" src=\"\/nipt\/wp-content\/uploads\/2024\/06\/Microdeletion-VeseqV2-1024x810.jpg\" alt=\"\" class=\"wp-image-78593\"\/><\/figure>\n\n\n\n<p><br>For DiGeorge syndrome, they are represented by \u2606 and \u2605. \u2606 represents cases that were actually positive but diagnosed as negative. \u2605 represents cases correctly diagnosed with DiGeorge syndrome. The vertical axis represents the deletion size. Most stars are located below 3 Mb. This is because about 90% of DiGeorge syndrome cases occur at 3 Mb or less. The dotted curve line is the detection limit threshold. Cases located below this line will be false negatives. In other words, cases that should come out positive end up negative. The five \u2606 in the lower left are those cases. 5 out of 14 cases are false negatives. This means the sensitivity is 71.4%.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"806\" height=\"532\" src=\"\/nipt\/wp-content\/uploads\/2024\/06\/image.png\" alt=\"\" class=\"wp-image-78606\"\/><\/figure>\n\n\n\n<p>At Hiro Clinic, the distribution of fetal fraction (FF) is shown above. As of June 2024 data, the proportion of patients with an FF of 10% or less is 43.7%. This means that nearly half of the patients have an FF of 10% or less, which may result in a false negative for DiGeorge syndrome.<\/p>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n  <p class=\"jisseki mincho\">Our NIPT Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n<p class=\"jisseki font-s gothic\">Our NIPT Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/20th-anniversary\/?lang=en\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n\n\n\n<section class=\"microdeletion-syndrome-box\">\n  <h3>DiGeorge Syndrome Overview and Symptoms<\/h3>\n  <p>DiGeorge syndrome is a genetic disorder caused by the deletion of specific genes. This syndrome can lead to a variety of symptoms, including hypoplasia of the thymus and parathyroid glands, congenital cardiovascular anomalies, and distinctive facial features. Additionally, it is characterized by immune system problems, recurrent infections, and speech difficulties due to a submucous cleft palate.<\/p>\n<\/section>\n\n\n\n<section class=\"microdeletion-syndrome-box\">\n  <h3>Emanuel Syndrome Overview and Symptoms<\/h3>\n  <p>A phenomenon where parts of chromosomes swap places is called a chromosomal translocation. Due to this, translocation carriers face risks of miscarriage and infertility when trying to have children. In particular, translocation between chromosomes 11 and 22 can lead to Emanuel Syndrome. Diagnosed through specific genetic testing, this syndrome causes severe chromosomal abnormalities, including congenital heart disease, cleft palate, imperforate anus, and kidney malformations.<\/p>\n<\/section>\n\n\n\n<section class=\"microdeletion-syndrome-box\">\n  <h3>22q11.2 Microduplication Syndrome Overview and Symptoms<\/h3>\n  <p>Caused by a duplication of a portion of chromosome 22, congenital heart disease is observed in 80% of patients. Tetralogy of Fallot is particularly representative, involving ventricular septal defect, overriding aorta, and other anomalies. Cardiovascular diseases significantly impact prognosis, alongside a wide variety of other clinical symptoms.<\/p>\n  <div>\u3010Survey Overview\u3011<\/div>\n  <table class=\"table-table\">\n    <tbody>\n      <tr>\n        <th>Survey Period<\/th>\n        <th>June 2020 \u2013 November 2023<\/th>\n        <th>April 2023 \u2013 March 2024<\/th>\n      <\/tr>\n      <tr>\n        <th>Survey Institution<br class=\"sp-only\">(Survey Conducted By)<\/th>\n        <td colspan=\"2\">Tokyo Medical Laboratory<\/td>\n      <\/tr>\n      <tr>\n        <th>Target Population<\/th>\n        <td colspan=\"2\">Patients aged 19 to 51 who underwent <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (Non-Invasive Prenatal Testing) at our clinic<\/td>\n      <\/tr>\n      <tr>\n        <th>Valid Responses<br class=\"sp-only\">(Sample Size)<\/th>\n        <td>Approx. 75,000 cases<\/td>\n        <td>4,543 cases<\/td>\n      <\/tr>\n    <\/tbody>\n  <\/table>\n  <div>*All data figures in this release are based on test takers at our clinic.<\/div>\n<\/section>\n\n\n\n<section class=\"microdeletion-syndrome-box\">\n  <h3 class=\"wp-block-heading\">Deletion Sites of the 7 Microdeletion and Duplication Syndromes<\/h3>\n  <p>The 7 microdeletion and duplication syndromes are conditions caused by minute deletions in specific regions: the &#8220;long arm of chromosome 22,&#8221; &#8220;short arm of chromosome 1,&#8221; &#8220;short arm of chromosome 17,&#8221; &#8220;short arm of chromosome 4,&#8221; &#8220;short arm of chromosome 5,&#8221; and &#8220;long arm of chromosome 15.&#8221;<br>\n  In the affected sites listed below, the very first number indicates the chromosome number, followed by &#8220;p&#8221; for the short arm and &#8220;q&#8221; for the long arm. The short arm refers to the upper section of the chromosome, and the long arm refers to the lower section. The next number indicates the specific region counted from the central centromere, and the &#8220;-&#8221; (minus sign) signifies that this region is deleted.<\/p>\n\n  <figure class=\"wp-block-image size-full\" style=\"text-align: center;\">\n    <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2022\/09\/pc_microdeletion-syndrome_en.png\" alt=\"\" class=\"wp-image-41264 pc_only\" style=\"margin: 0 auto;\">\n    <img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2022\/09\/sp_microdeletion-syndrome_en.png\" alt=\"\" class=\"wp-image-41258 sp_only\" style=\"margin: 0 auto;\">\n  <\/figure>\n<\/section>\n\n\n\n<section class=\"microdeletion-syndrome-box\">\n  <h3 class=\"wp-block-heading\">If the Result is Positive, Amniocentesis is Recommended<\/h3>\n  <p>If your test result is positive, our clinic strongly recommends undergoing amniocentesis. Following amniocentesis, the amniotic fluid must be analyzed using microarray analysis or exome sequencing.<br>The reality is that very few testing facilities in Japan perform these specific analyses. If you wish to proceed with analysis and confirm your condition, please consult with our clinic. We will introduce you to a suitable testing facility.<\/p>\n<\/section>\n<style>\n  .microdeletion-syndrome-box {\n    text-align: left;\n  } \n<\/style>\n\n\n\n<style>\n  .plan_2 {\n    width: 100%;\n    max-width: 420px;\n    margin: 2rem auto;\n    text-align: center;\n  }\n  .plan_2 .bnr_wrapper{\n    display: flex;\n    justify-content: center;\n  }\n  .bnr_wrapper img{\n    max-width:420px;\n    min-width:300px;\n  }\n@media screen and (max-width: 700px){\n  .plan_2 img{\n    width: 90%;\n    margin: 0 auto;\n} \n.bnr_wrapper{\n    display:block!important;\n    margin: 0 auto;\n    text-align: center;  \n}\n  }\n<\/style>\n\n\n\n<div class=\"newcta\">\n <a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n  <p class=\"jisseki mincho\">Our NIPT Track Record <span class=\"big\">Over 75,000<span> cases<\/span><\/span><\/p>\n  <p class=\"res-btn\">Check Availability &#038; Book Now<\/p>\n <\/a>\n<\/div>\n<style>\n.newcta{\n  margin:1rem auto 2rem;\n}\n.newcta a{\n  width:100%;\n  max-width:500px;\n  margin:0 auto;\n  display:block;\n  text-decoration:none;\n  text-align:center;\n}\n.newcta p{\n  margin:0 auto;\n}\n.newcta .jisseki{\n  margin:0 auto;\n  position:relative;\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n  background: linear-gradient(to bottom, #b68d3c 0%, #e2b95f 35%, #b68d3c);\n  -webkit-background-clip: text;\n  color: rgba(0,0,0,0);\n  font-weight:bold;\n  display:inline-flex;\n  flex-wrap:wrap;\n  align-items:center;\n  justify-content:center;\n  gap:.5rem;\n  padding-bottom:1rem;\n}\n.newcta .jisseki span{\n  font-size:2rem;\n}\n.newcta .jisseki span span{\n  font-size:clamp(1rem, 0.909rem + 0.45vw, 1.25rem);\n}\n.newcta .res-btn{\n  display:inline-block;\n  background:#f0a3b8;\n  padding:1.5rem 2rem;\n  text-align:center;\n  border-radius:1rem;\n  box-shadow:0 .5rem .5rem #f0a3b866;\n  color:#fff;\n  font-size:1.2rem;\n  font-weight:bold;\n  letter-spacing:.2rem;\n  min-width:320px;\n}\n@media screen and (max-width:500px){\n  .newcta .jisseki .big{\n    width:100%;\n  }\n  .newcta .res-btn{\n    padding:1.5rem 0;\n  }\n}\n<\/style>\n<div class=\"old-cta\">\n<div class=\"container\" style=\"padding:10px\">\n<div class=\"nipt-bnr mincho\">\n<a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\">\n<p class=\"jisseki font-s gothic\">Our NIPT Track Record<\/p>\n<p class=\"total font-m\"><span class=\"gold font-l\">68,000<\/span> cases<\/p>\n<p class=\"res font-s gothic\">Book an Appointment \u25b6\ufe0e\u25b6\ufe0e\u25b6\ufe0e<\/p>\n<\/a>\n<\/div>\n<\/div>\n<\/div>\n<div class=\"content-center\" style=\"max-width:1200px;margin:0 auto;width:90%\">\n <div class=\"image-text-block\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/20th-anniversary\/?lang=en\" style=\"max-width:825px;margin:0.5rem auto\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/uploads\/2026\/06\/forplan_btn-en-1.webp\" style=\"width:100%\"><\/a>\n <\/div>\n<\/div>\n<style>\n.old-cta{\n  display:none;\n}\n.nipt-bnr{\n  display:flex;\n  justify-content:center;\n  align-items:center;\n  width:calc(100% - 3rem);\n  min-width:350px;\n  max-width:480px;\n  aspect-ratio:11 \/ 5;\n  position:relative;\n  margin:1rem auto;\n  background-image:linear-gradient(to bottom,#63513c,#63513c,#feef7b,#63513c,#63513c);\n  border-radius:8px;\n  box-shadow:6px 6px 6px #999;\n}\n.nipt-bnr .gold{\n  background:linear-gradient(to bottom,#d1ac60,#e8ca74 50%,#d29e30,#ac7726);\n  -webkit-background-clip: text;\n  -webkit-text-fill-color: transparent;\n  font-weight:bold;\n}\n.cta-btn-nipt-reservation-wimg{\n  text-decoration:none;\n  border-bottom:initial;\n}\n.label-link {\n  align-items: center;\n  text-decoration: none;\n  gap: 8px;\n}\n.image-text-block {\n  text-align: center;\n}\n.tittle_price{\n font-weight:900;\n font-size:2rem;\n color:#e54c84;\n text-align:center;\n border-bottom:none;\n margin-bottom:-10px;\n}\n.box_11 {\n  width: 12px;\n  height: 12px;\n  background-color: #e54c84;\n  border-radius: 2px;\n  flex-shrink: 0;\n}\n.center-container {\n  text-align: center;\n}\n.label-box{\ndisplay:block;\nfont-size:1.3rem !important;\nfont-weight:900;\ncolor:#e54c84;\ntext-align:right;\n}\n<\/style>\n","protected":false},"excerpt":{"rendered":"Our NIPT Track Recor&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":0,"parent":29825,"menu_order":87,"comment_status":"closed","ping_status":"closed","template":"page_wide.php","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-37877","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/37877","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=37877"}],"version-history":[{"count":28,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/37877\/revisions"}],"predecessor-version":[{"id":134248,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/37877\/revisions\/134248"}],"up":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/pages\/29825"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=37877"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}