{"id":44665,"date":"2020-07-10T09:30:54","date_gmt":"2020-07-10T00:30:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/"},"modified":"2025-10-16T11:26:56","modified_gmt":"2025-10-16T02:26:56","slug":"prader-willi-angelman","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en","title":{"rendered":"What are Prader-Willi syndrome and Angelman syndrome \u00a0(*Written with Supervision of a Doctor) ?"},"content":{"rendered":"\n<div class=\"toc\">\n\t<ul>\n\t\t<li><a href=\"#c1\">What is 15q11.2 deletion syndrome?<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c1-1\">Prader-Willi Syndrome<\/a>\n\t\t\t\t\t<ul>\n\t\t\t\t\t\t<li><a href=\"#c1-1-1\">Characteristics<\/a><\/li>\n\t\t\t\t\t\t<li><a href=\"#c1-1-2\">Causes<\/a><\/li>\n\t\t\t\t\t\t<li><a href=\"#c1-1-3\">Complications<\/a><\/li>\n\t\t\t\t\t\t<li><a href=\"#c1-1-4\">Treatments<\/a><\/li>\n\t\t\t\t\t<\/ul>\n\t\t\t\t<\/li>\n\t\t\t\t<li><a href=\"#c1-2\">Angelman Syndrome<\/a>\n\t\t\t\t\t<ul>\n\t\t\t\t\t\t<li><a href=\"#c1-2-1\">Characteristics<\/a><\/li>\n\t\t\t\t\t\t<li><a href=\"#c1-2-2\">Causes<\/a><\/li>\n\t\t\t\t\t\t<li><a href=\"#c1-2-3\">Complications<\/a><\/li>\n\t\t\t\t\t\t<li><a href=\"#c1-2-4\">Treatments<\/a><\/li>\n\t\t\t\t\t<\/ul>\n\t\t\t\t<\/li>\n\t\t\t\t<li><a href=\"#c1-3\">What is All Autosomal Whole Region Partial Deletion Disease?<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c2\">NIPT\uff08Non-invasive Prenatal Testing)<\/a>\n\t\t\t<ul>\n\t\t\t\t<li><a href=\"#c2-1\">1p36 Deletion Syndrome<\/a><\/li>\n\t\t\t\t<li><a href=\"#c2-2\">4p Deletion Syndrome (Wolff-Hirschhorn syndrome)<\/a><\/li>\n\t\t\t\t<li><a href=\"#c2-3\">5p Deletion Syndrome (Cri-du-chat Syndrome)<\/a><\/li>\n\t\t\t\t<li><a href=\"#c2-4\">15q11.2 Deletion Syndrome (Prada-Willi Syndrome and Angelman Syndrome)<\/a><\/li>\n\t\t\t\t<li><a href=\"#c2-5\">22q11.2 Deletion Syndrome (Di George Syndrome)<\/a><\/li>\n\t\t\t<\/ul>\n\t\t<\/li>\n\t\t<li><a href=\"#c3\">Summary<\/a><\/li>\n\t<\/ul>\n<button class=\"toc_more\">Open the Table of Contents<\/button>\n<\/div>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/banner\/nipt04pc.png\" alt=\"\u80ce\u5150\u306e\u6027\u5225\u306f10\u9031\u76ee\u3067\u308f\u304b\u308b\"><\/a> <\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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\/prader-willi-angelman\/?lang=en\/#What_is_15q112_deletion_syndrome\" >What is 15q11.2 deletion syndrome?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Prader-Willi_Syndrome\" >Prader-Willi Syndrome<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Characteristics\" >Characteristics<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Causes\" >Causes<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Complications\" >Complications<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Treatments\" >Treatments<\/a><\/li><\/ul><\/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\/prader-willi-angelman\/?lang=en\/#Angelman_Syndrome\" >Angelman Syndrome<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Characteristics-2\" >Characteristics<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Causes-2\" >Causes<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Complications-2\" >Complications<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Treatments-2\" >Treatments<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#What_is_All_Autosomal_Whole_Region_Partial_Deletion_Disease\" >What is All Autosomal Whole Region Partial Deletion Disease?<\/a><\/li><\/ul><\/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\/prader-willi-angelman\/?lang=en\/#NIPT%EF%BC%88Non-invasive_Prenatal_Testing\" >NIPT\uff08Non-invasive Prenatal Testing)<\/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\/prader-willi-angelman\/?lang=en\/#1p36_Deletion_Syndrome\" >1p36 Deletion Syndrome<\/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\/prader-willi-angelman\/?lang=en\/#4p_Deletion_Syndrome_Wolff-Hirschhorn_syndrome\" >4p Deletion Syndrome (Wolff-Hirschhorn 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\/prader-willi-angelman\/?lang=en\/#5p_Deletion_Syndrome_Cri-du-chat_Syndrome\" >5p Deletion Syndrome (Cri-du-chat Syndrome)<\/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\/prader-willi-angelman\/?lang=en\/#15q112_Deletion_Syndrome_Prada-Willi_Syndrome_and_Angelman_Syndrome\" >15q11.2 Deletion Syndrome (Prada-Willi Syndrome and Angelman Syndrome)<\/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\/prader-willi-angelman\/?lang=en\/#22q112_Deletion_Syndrome_Di_George_Syndrome\" >22q11.2 Deletion Syndrome (Di George Syndrome)<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\/#Summary\" >Summary<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\" id=\"c1\"><span class=\"ez-toc-section\" id=\"What_is_15q112_deletion_syndrome\"><\/span>What is 15q11.2 deletion syndrome?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The 15q11.2 deletion syndrome includes the following two syndromes:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Prader-Willi syndrome<\/li>\n\n\n\n<li>Angelman syndrome<\/li>\n<\/ul>\n\n\n\n<p>The following are details on the characteristics, causes, symptoms, complications, and treatment of the two syndromes:<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-1\"><span class=\"ez-toc-section\" id=\"Prader-Willi_Syndrome\"><\/span>Prader-Willi Syndrome<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c1-1-1\"><span class=\"ez-toc-section\" id=\"Characteristics\"><\/span>Characteristics<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p><span class=\"y_marker\">One in 15,000 children<\/span> develop severe hypotonia and feeding difficulties in early infancy, and after the age of three, obesity that leads to overeating in late infancy is a characteristic of the syndrome. Other characteristics of Prader-Willi syndrome include delayed language and motor development, stubborn and obsessive personality, and <span class=\"y_marker\">short stature and strabismus<\/span>.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c1-1-2\"><span class=\"ez-toc-section\" id=\"Causes\"><\/span>Causes<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>The cause of Prader-Willi syndrome is not clearly identified even in modern medicine, but it is believed that 70% of cases are caused by partial deletion of all paternal autosomal regions of chromosomes q11 and q13 of chromosome 15 inherited from the parents, and 20% of cases are caused by chromosome 15 maternal dysomy.<\/p>\n\n\n\n<p>Prada-Willi syndrome is <span class=\"y_marker\"> not hereditary, and no known family-onset cases of epi-mutation have been reported<\/span>.<\/p>\n\n\n\n    <a href=\"\/nipt\/cost-prenatal-testing\/?lang=en\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u51fa\u751f\u524d\u8a3a\u65ad\u306b\u304b\u304b\u308b\u8cbb\u7528\u306e\u307e\u3068\u3081\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u65e9\u671f\u51fa\u751f\u524d\u8a3a\u65ad(\u3057\u3085\u3063\u305b\u3044\u307e\u3048\u3057\u3093\u3060\u3093)\u306f\u3044\u304f\u3089\u3059\u308b\u306e\uff1f\u7d68\u6bdb\u691c\u67fb\u30fb\u7f8a\u6c34\u691c\u67fb\u30fb\u30a8\u30b3\u30fc\u691c\u67fb\u30fb\u6bcd\u4f53\u8840\u6e05\u30de\u30fc\u30ab\u30fc\u691c\u67fb\u306e\u305d\u308c\u305e\u308c\u306e\u8cbb\u7528\u3084\u3001NIPT(\u65b0...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c1-1-3\"><span class=\"ez-toc-section\" id=\"Complications\"><\/span>Complications<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Complications of Prader-Willi syndrome include breathing problems, diabetes, myopia, hyperopia, strabismus, and cutaneous paresthesia.<\/p>\n\n\n\n<p>Other issues that affect patients and their families the most are personality disorders and aberrant behavior, two of the most common symptoms that patients and their families must deal with for the rest of their lives.<\/p>\n\n\n\n<p>Another effective way to prevent complications is to be careful in day-to-day living.<\/p>\n\n\n\n<p>Diet and nutritional management is extremely important, and we recommend that a thorough daily calorie count be performed, as once a person becomes obese, it is difficult to lose weight.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c1-1-4\"><span class=\"ez-toc-section\" id=\"Treatments\"><\/span>Treatments<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>There are four treatment options available:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Exercise Treatment\t\t\t\t\t\n<\/li>\n\n\n\n<li>Sex Hormone Replacement Treatment\t\t\t\t\t\n<\/li>\n\n\n\n<li>Growth Hormone Replacement Treatment\t\t\t\t\t\n<\/li>\n\n\n\n<li>Dietary Treatment<\/li>\n<\/ul>\n\n\n\n<p><br>All four treatments listed above are accepted worldwide and have been shown to be effective for Prader-Willi syndrome.<\/p>\n\n\n\n<p>Other therapies, while they still tend to be under-recognized worldwide, include treatments for mental disorders, and both specifically are currently under study and are the subject of future research.<\/p>\n\n\n\n<p>These are the four main treatments for Prader-Willi syndrome, of which <span class=\"y_marker\">Growth Hormone Treatment<\/span> is considered to be the most effective.<\/p>\n\n\n\n<p>Other very effective ways to work are thorough nutritional management from the early stages of the disorder.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/09\/prader-willi-angelman02.jpg\" alt=\"\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\" class=\"wp-image-39655\"\/><\/figure><\/div>\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-2\"><span class=\"ez-toc-section\" id=\"Angelman_Syndrome\"><\/span>Angelman Syndrome<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c1-2-1\"><span class=\"ez-toc-section\" id=\"Characteristics-2\"><\/span>Characteristics<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>Angelman Syndrome is a severe intellectual disability, an intractable disease that affects 1 in 15,000 people.<\/p>\n\n\n\n<p>Symptoms include jerky movements and quick laughter at the slightest thing, and their appearance is characterized by a large mouth and a prominent chin.<\/p>\n\n\n\n<p>They are also characterized by a high level of curiosity and an interest in accessories and other shiny things.<\/p>\n\n\n\n    <a href=\"\/nipt\/wolf-hirschhorn\/?lang=en\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u7279\u5fb4\u3084\u539f\u56e0\u3001\u75c7\u72b6\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">4\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306b\u4f4d\u7f6e\u3059\u308b\u907a\u4f1d\u5b50\u7fa4\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u75be\u60a3\u300c4p\u6b20\u5931\u75c7\u5019\u7fa4\u300d(\u30a6\u30a9\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4)\u3002\u56fd\u306e\u6307\u5b9a\u96e3\u75c5\u306b\u8a8d\u3081\u3089...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c1-2-2\"><span class=\"ez-toc-section\" id=\"Causes-2\"><\/span>Causes<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>It is believed to be caused by loss of function of the UBE3A gene at positions q11 and q13 on chromosome 15.<\/p>\n\n\n\n<p>Genetic abnormalities are also believed to be the mechanism by which the UBE3A gene loses its function.<\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c1-2-3\"><span class=\"ez-toc-section\" id=\"Complications-2\"><\/span>Complications<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>The following are six of the most common complications of Angelman syndrome:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Developmental Delay\t\t\t\t\t\n<\/li>\n\n\n\n<li>Cardiac complications\t\t\t\t\t\n<\/li>\n\n\n\n<li>Respiratory failure\t\t\t\t\t\n<\/li>\n\n\n\n<li>Severe Mental Retardation\t\t\t\t\t\n<\/li>\n\n\n\n<li>Strabismus\t\t\t\t\t\n<\/li>\n\n\n\n<li>Intractable Epilepsy<\/li>\n<\/ul>\n\n\n\n<p><br>In addition to the six complications listed above, other symptoms of complications may be observed.                                        <\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"c1-2-4\"><span class=\"ez-toc-section\" id=\"Treatments-2\"><\/span>Treatments<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>As for treatments for Angelman syndrome, no definitive cure has yet been found anywhere in the world.<\/p>\n\n\n\n<p>Currently, the main treatment is symptomatic therapy, specifically medication and counseling to alleviate the distress caused by the symptoms that have surfaced.<\/p>\n\n\n\n<p>However, it is not a definitive treatment and is not expected to be directly effective for Angelman syndrome.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c1-3\"><span class=\"ez-toc-section\" id=\"What_is_All_Autosomal_Whole_Region_Partial_Deletion_Disease\"><\/span>What is All Autosomal Whole Region Partial Deletion Disease?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>About 80% of  <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">all autosomal whole region partial deletion diseases<\/a>  show a 2q37 deletion on chromosome testing, and the remaining 20% are due to deletions that are so small that they can only be detected by deletion analysis, although there are various testing methods available.<\/p>\n\n\n\n<p>It tends to occur in about <span class=\"y_marker\">0.7 out of every 1,000 people<\/span> and is not inherited from a parent or ancestor, but is caused by a mutation during egg and sperm production.<\/p>\n\n\n\n<p>The main symptoms include hernia, gastrointestinal abnormalities, visceral retroversion, and tracheomalacia.<\/p>\n\n\n\n<p>In addition, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">partial deletion of all autosomal regions<\/a> causes mild to moderate developmental delay and mental retardation, and the appearance of the child is characterized by an obese build and short stature.<\/p>\n\n\n\n<p>Thus, all autosomal <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">whole region partial deletion diseases<\/a> have a variety of symptoms and are currently difficult to test for. However, with the <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">all autosomal whole region partial duplication disease<\/a> test, it is possible to perform an excellent test with a low chance of missing minute abnormalities.<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"600\" height=\"400\" src=\"\/nipt\/wp-content\/uploads\/2022\/09\/prader-willi-angelman01.jpg\" alt=\"\u907a\u4f1d\u5b50\u7570\u5e38\" class=\"wp-image-39659\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"c2\"><span class=\"ez-toc-section\" id=\"NIPT%EF%BC%88Non-invasive_Prenatal_Testing\"><\/span>NIPT\uff08Non-invasive Prenatal Testing)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The 15q11.2 deletion syndromes Prader-Willi and Angelman syndromes introduced so far are caused by genetic factors and mutations, but <span class=\"y_marker\">it is possible to check whether the baby is healthy and sound before birth by using <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=en\">NIPT (Non-invasive Prenatal Testing)<\/a>.<\/span><\/p>\n\n\n\n    <a href=\"\/nipt\/golden-period\/?lang=en\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u598a\u5a20\u5b89\u5b9a\u671f\u306f\u3044\u3064\u304b\u3089\uff1f\u904e\u3054\u3057\u65b9\u306b\u3064\u3044\u3066\u89e3\u8aac\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u300c\u598a\u5a20\u5b89\u5b9a\u671f\u300d\u3068\u306f\u3001\u4e00\u822c\u7684\u306b\u598a\u5a2016\u9031\u301c32\u9031\u76ee\u304c\u671f\u9593\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u671f\u9593\u306f\u598a\u5a66\u3055\u3093\u306e\u4f53\u8abf\u3082\u5b89\u5b9a\u3057\u307e\u3059\u304c\u3001\u6cb9\u65ad\u305b\u305a\u6ce8\u610f\u70b9\u3092\u5b88\u308a\u306a\u304c...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p>The testing procedure specifically involves drawing blood from the mother of the baby and performing a blood test to determine the baby&#8217;s chromosomal abnormalities.<\/p>\n\n\n\n<p>In addition, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">testing for all autosomal whole region partial deletion diseases <\/a> is available for the following five syndromes: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> Deletion Syndrome\t\t\t\t\t\n<\\li><li>4p Deletion Syndrome (Wolff-Hirschhorn Syndrome)\t\t\t\t\t\n<\\li><li>5p Deletion Syndrome (Cri-du-chat Syndrome)\t\t\t\t\t\n<\\li><li>15q11.2 Deletion Syndrome (Prada-Willi Syndrome and Angelman Syndrome)\t\t\t\t\t\n<\\li><li>22q11.2 Deletion Syndrome (Di George Syndrome)<\\li>\t\t\t\t\n<\/ul>\n\n\n\n<p><br>Each of these syndromes will be discussed in detail.<\/p>\n\n\n<p style=\"width:100%;max-width:300px;margin:0 auto;\"><a href=\"\/nipt\/\" class=\"content-bnr about\"><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/banner\/nipt04pc.png\" alt=\"\u80ce\u5150\u306e\u6027\u5225\u306f10\u9031\u76ee\u3067\u308f\u304b\u308b\"><\/a> <\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-1\"><span class=\"ez-toc-section\" id=\"1p36_Deletion_Syndrome\"><\/span>1p36 Deletion Syndrome<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>It is one of the chromosomal abnormality syndromes characterized by neurological symptoms such as hypotonia and psychomotor development and a face characteristic of <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36<\/a> deletion syndrome.<\/p>\n\n\n\n<p>Other symptoms include severe mental retardation, growth retardation, and intractable epilepsy.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-2\"><span class=\"ez-toc-section\" id=\"4p_Deletion_Syndrome_Wolff-Hirschhorn_syndrome\"><\/span>4p Deletion Syndrome (Wolff-Hirschhorn syndrome)<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>It is an over-chromosomal syndrome caused by deletion of a group of genes located on the short arm of chromosome 4 and is characterized by growth retardation, multiple shape abnormalities, and severe mental development.<\/p>\n\n\n\n<p>It is also a government-designated chronic childhood disease, with an occurrence rate of 1 in 50,000 children.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-3\"><span class=\"ez-toc-section\" id=\"5p_Deletion_Syndrome_Cri-du-chat_Syndrome\"><\/span>5p Deletion Syndrome (Cri-du-chat Syndrome)<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>It is a syndrome of chromosomal abnormalities caused by partial deletion of the short arm of chromosome 5.<\/p>\n\n\n\n<p>The main symptoms include high-pitched crying, abnormal fingers and toes, growth retardation, and decreased muscle tone.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-4\"><span class=\"ez-toc-section\" id=\"15q112_Deletion_Syndrome_Prada-Willi_Syndrome_and_Angelman_Syndrome\"><\/span>15q11.2 Deletion Syndrome (Prada-Willi Syndrome and Angelman Syndrome)<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>It is a chromosomal abnormality syndrome caused by deletion of the 15q11-13 region of chromosome 15, and is characterized by symptoms such as hypomyotonia and hypopigmentation.<\/p>\n\n\n\n<p>They may also have complications such as cleft palate, hypocalcemia, and impaired Immunity.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"c2-5\"><span class=\"ez-toc-section\" id=\"22q112_Deletion_Syndrome_Di_George_Syndrome\"><\/span>22q11.2 Deletion Syndrome (Di George Syndrome)<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>It is a chromosomal abnormality syndrome caused by a microdeletion of chromosome 22, q11.2.<\/p>\n\n\n\n<p>It is a disease characterized by delayed mental development, impaired immunity, and hypocalcemia as its main symptoms, and it occurs in 1 in 4,000 to 5,000 people.<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=en\">Hiro Clinic NIPT<\/a> offers testing for these <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">all autosomal partial deletion diseases<\/a> at the Tokyo Clinical Laboratory, and can also perform testing for <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">all autosomal partial deletion and duplication diseases<\/a> in addition to the above-mentioned <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/?lang=en\">all autosomal partial deletion diseases<\/a><\/p>\n\n\n\n    <a href=\"\/nipt\/genetic-counseling\/?lang=en\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">NIPT\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306f\u5fc5\u8981\uff1f\u5185\u5bb9\u3084\u91cd\u8981\u6027\u3092\u89e3\u8aac <\/div>\n          <div class=\"blog-card-excerpt\">\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001NIPT\u306b\u304a\u3051\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5fc5\u8981\u6027\u3084\u5177\u4f53\u7684\u306a\u5185\u5bb9\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u691c\u67fb\u3092\u53d7\u3051\u308b\u524d\u306e\u6ce8\u610f\u70b9\u3084\u3001\u5f8c\u6094\u3057\u306a\u3044\u305f\u3081\u306e\u5224\u65ad\u57fa\u6e96...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"c3\"><span class=\"ez-toc-section\" id=\"Summary\"><\/span>Summary<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>How was it? In this article, we introduced 15q11.2 deletion syndrome (Prader-Willi syndrome and Angelman syndrome).<\/p>\n\n\n\n<p>15q11.2 deletion syndrome is considered a designated incurable disease caused by a genetic abnormality, which is also known specifically as Prader-Willi syndrome or Angelman syndrome.<\/p>\n\n\n\n<p>The major difference between accredited and non-accredited facilities is whether or not <span class=\"y_marker\">people over 35 years of age<\/span> can take the test, and we recommend that you select the facility that best suits your needs based on your own age.<\/p>\n\n\n\n<p>We urge you to use what we have described in this article to investigate disorders of genetic abnormalities, such as 15q11.2 deletion syndrome, by using <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=en\">NIPT (Non-invasive Prenatal Testing)<\/a>.<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>\u3010References\u3011<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Intractable Disease Information Center &#8211; <a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4768\" data-type=\"URL\" data-id=\"https:\/\/www.nanbyou.or.jp\/entry\/4768\">\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5\uff11\uff19\uff13\uff09<\/a><\/li>\n\n\n\n<li>Intractable Disease Information Center  &#8211; <a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4772\">\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\uff08\u6307\u5b9a\u96e3\u75c5\uff12\uff10\uff11\uff09<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"What is 15q11.2 dele&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/prader-willi-angelman\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":24739,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[199],"tags":[1419,259],"class_list":["post-44665","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-disorder","tag-1419","tag-deletion-syndrome-en"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/44665","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\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=44665"}],"version-history":[{"count":4,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/44665\/revisions"}],"predecessor-version":[{"id":118310,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/44665\/revisions\/118310"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/24739"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=44665"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=44665"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=44665"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}