{"id":84033,"date":"2024-11-15T16:07:23","date_gmt":"2024-11-15T07:07:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/"},"modified":"2026-07-12T21:19:16","modified_gmt":"2026-07-12T12:19:16","slug":"22q13-duplication-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/22q13-duplication-syndrome\/?lang=en","title":{"rendered":"22Q13 Duplication Syndrome Disorder"},"content":{"rendered":"\n

If your child’s test results mentioned “22q13 duplication syndrome,” an unfamiliar name like this can be confusing and worrying.<\/strong><\/p>\n\n\n\n

Here is the conclusion first. This is a chromosomal condition caused by an extra copy (duplication) of the 22q13 region on the long arm of chromosome 22, and it is a different condition from the similarly named “22q13 deletion syndrome (Phelan-McDermid syndrome)” in both cause and typical symptoms.<\/strong> Depending on the size of the duplicated region and which genes are included, the range of symptoms is very wide \u2014 from mild speech delay alone to more noticeable developmental delay.<\/p>\n\n\n\n

This article covers the chromosomal change behind the condition, how it differs from the easily confused “22q13 deletion syndrome,” the range of symptoms, inheritance patterns and the possibility of unaffected carriers, the relationship with prenatal testing and NIPT<\/a>, the path to a definitive diagnosis, and treatment and family support. Information is based on public and academic sources including the US NIH Genetic Testing Registry (GTR), case reports published in Molecular Syndromology and Psychiatric Genetics, and guidance from the Japan Society of Obstetrics and Gynecology (JSOG). Let’s go through each point carefully rather than relying on fragmented information.<\/p>\n\n\n\n

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\ud83d\udca1 What this article covers<\/p>\n