{"id":116551,"date":"2025-09-25T16:54:25","date_gmt":"2025-09-25T07:54:25","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/"},"modified":"2025-09-25T17:03:44","modified_gmt":"2025-09-25T08:03:44","slug":"nipt-22q11-2-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=en","title":{"rendered":"What is 22q11.2 Deletion Syndrome? Exploring Its Link with Intellectual Disability"},"content":{"rendered":"\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\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#1_Introduction_What_is_22q112_Deletion_Syndrome\" >1. Introduction: What is 22q11.2 Deletion Syndrome?<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#2_Key_Symptoms_and_Clinical_Features\" >2. Key Symptoms and Clinical Features<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#3_Relationship_with_Intellectual_Disability\" >3. Relationship with Intellectual Disability<\/a><\/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\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#4_What_NIPT_Can_and_Cannot_Detect\" >4. What NIPT Can and Cannot Detect<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#5_Confirmatory_Diagnosis_and_Genetic_Counseling\" >5. Confirmatory Diagnosis and Genetic Counseling<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#6_Impact_on_Families_and_Society_and_Available_Support\" >6. Impact on Families and Society, and Available Support<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#7_Key_Takeaways\" >7. Key Takeaways<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#8_Importance_of_Prenatal_Diagnosis\" >8. Importance of Prenatal Diagnosis<\/a><\/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\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#9_Psychological_Impact_and_Family_Decisions\" >9. Psychological Impact and Family Decisions<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#10_Social_and_Ethical_Considerations\" >10. Social and Ethical Considerations<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#11_Future_Research_and_Medical_Outlook\" >11. Future Research and Medical Outlook<\/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\/nipt-22q11-2-deletion-syndrome\/?lang=en\/#12_Conclusion\" >12. Conclusion<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_Introduction_What_is_22q112_Deletion_Syndrome\"><\/span>1. Introduction: What is 22q11.2 Deletion Syndrome?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2 deletion syndrome occurs when a small section of the long arm (q) of chromosome 22, at position 11.2, is missing.<br>It was formerly referred to as <strong>DiGeorge syndrome<\/strong> or <strong>Velocardiofacial Syndrome (VCFS)<\/strong>, but today the umbrella term \u201c22q11.2 deletion syndrome\u201d is used.<\/p>\n\n\n\n<p>This syndrome is characterized by diverse clinical features, including developmental delay, intellectual disability, congenital heart defects, immune deficiency, and psychiatric disorders.<br>It occurs in about <strong>1 in 4,000 live births<\/strong>, less common than the three major trisomies (e.g., Down syndrome), but relatively frequent among microdeletion syndromes.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_Key_Symptoms_and_Clinical_Features\"><\/span>2. Key Symptoms and Clinical Features<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>22q11.2 deletion syndrome presents with a wide range of symptoms:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Intellectual and learning disabilities<\/strong><br>\u2002Most individuals have mild to moderate intellectual disability (IQ 50\u201370)<br>\u2002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a> or learning disabilities may also occur<\/li>\n\n\n\n<li><strong>Neurodevelopmental and psychiatric risks<\/strong><br>\u2002Autism spectrum disorder (ASD)-like social and communication difficulties<br>\u2002Increased risk of schizophrenia in adolescence or adulthood<\/li>\n\n\n\n<li><strong>Congenital heart defects<\/strong><br>\u2002Examples include tetralogy of Fallot and aortic arch anomalies<\/li>\n\n\n\n<li><strong>Immune and endocrine abnormalities<\/strong><br>\u2002Cellular immune deficiency due to thymic hypoplasia<br>\u2002Seizures caused by hypocalcemia<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_Relationship_with_Intellectual_Disability\"><\/span>3. Relationship with Intellectual Disability<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Around <strong>70% of patients<\/strong> show mild to moderate intellectual disability or developmental delay.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Mild (IQ 50\u201369):<\/strong> may achieve partial independence with educational support<\/li>\n\n\n\n<li><strong>Moderate (IQ 35\u201349):<\/strong> usually requires continuous daily life support<\/li>\n<\/ul>\n\n\n\n<p>Language delay is common, and speech may be unclear due to articulation difficulties or velopharyngeal insufficiency.<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> developmental interventions and special education significantly improve learning and social outcomes.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_What_NIPT_Can_and_Cannot_Detect\"><\/span>4. What NIPT Can and Cannot Detect<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> (Non-Invasive Prenatal Testing)<\/strong> analyzes cell-free fetal DNA in maternal blood to screen for chromosomal abnormalities.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Traditionally detected by <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>:<\/strong><br>\u2002Trisomy 21 (Down syndrome)<br>\u2002Trisomy 18 (Edwards syndrome)<br>\u2002Trisomy 13 (Patau syndrome)<\/li>\n\n\n\n<li><strong>Recent advances:<\/strong><br>\u2002Some <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> panels now screen for <strong>microdeletion syndromes<\/strong>, including 22q11.2 deletion syndrome<\/li>\n<\/ul>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can detect:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Risk of 22q11.2 deletion and certain other microdeletion syndromes<\/li>\n\n\n\n<li>The three major trisomies<\/li>\n<\/ul>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> cannot detect:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Autism, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>, or other neurodevelopmental disorders not caused by deletions<\/li>\n\n\n\n<li>Definitive diagnosis (positive results require amniocentesis or genetic testing)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_Confirmatory_Diagnosis_and_Genetic_Counseling\"><\/span>5. Confirmatory Diagnosis and Genetic Counseling<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>If <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> suggests a high risk, confirmatory tests are required, such as:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Amniocentesis<\/li>\n\n\n\n<li>Genetic testing (e.g., FISH, CGH array)<\/li>\n<\/ul>\n\n\n\n<p><strong>Why genetic counseling is essential:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Symptom severity and prognosis vary widely<\/li>\n\n\n\n<li>Allows families to plan early medical and educational support<\/li>\n\n\n\n<li>Provides guidance for family planning and psychological support<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_Impact_on_Families_and_Society_and_Available_Support\"><\/span>6. Impact on Families and Society, and Available Support<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Many affected infants need medical care immediately after birth, requiring long-term family support.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Medical support:<\/strong> pediatric cardiology, immunology, endocrinology, and multidisciplinary care<\/li>\n\n\n\n<li><strong>Educational support:<\/strong> early intervention, special education services<\/li>\n\n\n\n<li><strong>Psychosocial support:<\/strong> family and patient organizations, social security (disability handbooks, allowances)<\/li>\n<\/ul>\n\n\n\n<p>These supports help improve quality of life (QOL).<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_Key_Takeaways\"><\/span>7. Key Takeaways<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>22q11.2 deletion syndrome often involves intellectual disability, developmental disorders, and heart defects<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can detect risk prenatally, but confirmation requires invasive testing<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> establishment of medical, psychological, and social support systems is critical<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_Importance_of_Prenatal_Diagnosis\"><\/span>8. Importance of Prenatal Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Traditionally diagnosed after birth, this condition can now be identified prenatally with <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>.<\/p>\n\n\n\n<p><strong>Advantages of prenatal detection:<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Immediate postnatal medical intervention (e.g., cardiac surgery, immune treatment)<\/li>\n\n\n\n<li>Advance planning for NICU admission and surgery<\/li>\n\n\n\n<li>Time for families to prepare emotionally and practically<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> initiation of multidisciplinary care<\/li>\n<\/ul>\n\n\n\n<p>Limitation: severity cannot be predicted precisely before birth.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_Psychological_Impact_and_Family_Decisions\"><\/span>9. Psychological Impact and Family Decisions<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Anxiety and dilemmas<\/strong><br>\u2002\u201cCan we raise a child with special needs?\u201d<br>\u2002Difficult decisions about pregnancy continuation<\/li>\n\n\n\n<li><strong>Family disagreements<\/strong><br>\u2002Different values between partners or extended family members<\/li>\n\n\n\n<li><strong>Need for psychological support<\/strong><br>\u2002Counseling from psychologists and genetic counselors is vital<br>\u2002Parent networks and support groups provide additional reassurance<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_Social_and_Ethical_Considerations\"><\/span>10. Social and Ethical Considerations<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>Social perceptions of disability<\/strong><br>\u2002Wider acceptance and support for families with disabled children are essential as prenatal testing becomes more common<br><\/p>\n\n\n\n<p><strong>Selective termination debates<\/strong><br>\u2002Decisions about continuing or terminating a pregnancy carry ethical challenges<br>\u2002Genetic counseling is required by medical guidelines<\/p>\n\n\n\n<p><strong>Information asymmetry<\/strong><br>\u2002Knowledge gaps between healthcare providers and families can cause misunderstandings<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/09\/23630468_s.webp\" alt=\"\u30cf\u30fc\u30c8\" class=\"wp-image-116545\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"11_Future_Research_and_Medical_Outlook\"><\/span>11. Future Research and Medical Outlook<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Genomic advances:<\/strong><br>\u2002More accurate screening for microdeletions and duplications<br>\u2002Improved prediction of psychiatric risks at the gene level<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/early-nipt-august-only\/\">Early<\/a> intervention and personalized care:<\/strong><br>\u2002Infant developmental programs to improve language and social skills<br>\u2002Lifelong individualized medical-educational care models<\/li>\n\n\n\n<li><strong>Social and legal progress:<\/strong><br>\u2002Stronger ethical frameworks and counseling systems<br>\u2002Better societal support for families raising children with disabilities<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"12_Conclusion\"><\/span>12. Conclusion<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>22q11.2 deletion syndrome is a chromosomal microdeletion disorder with diverse symptoms, including intellectual and developmental disabilities<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> can identify risks prenatally, but definitive diagnosis requires invasive testing<\/li>\n\n\n\n<li>Due to wide variation in severity, genetic counseling, psychological support, and social preparation are essential<\/li>\n\n\n\n<li>Future priorities include early diagnosis, personalized support, and expanded social understanding<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"1. Introduction: Wha&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-22q11-2-deletion-syndrome\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":116544,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-116551","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\/116551","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\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=116551"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116551\/revisions"}],"predecessor-version":[{"id":116562,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/116551\/revisions\/116562"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/116544"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=116551"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=116551"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=116551"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}