{"id":84394,"date":"2024-11-15T14:17:17","date_gmt":"2024-11-15T05:17:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/"},"modified":"2026-07-12T21:24:44","modified_gmt":"2026-07-12T12:24:44","slug":"13q14-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/13q14-deletion-syndrome\/?lang=en","title":{"rendered":"13q14 Deletion Syndrome"},"content":{"rendered":"\n

If you have heard the diagnosis “13q14 deletion syndrome” alongside the word “retinoblastoma,” you may be feeling uncertain about what these terms mean.<\/strong><\/p>\n\n\n\n

Here is the short answer: 13q14 deletion syndrome is an extremely rare genetic condition caused by the congenital loss of part of the genetic material at band 14 on the long arm of chromosome 13 (13q14).<\/strong> This region contains the RB1 gene, which normally suppresses a childhood eye cancer called retinoblastoma, so depending on how much is deleted, this condition carries a risk of retinoblastoma that sets it apart from most other microdeletion syndromes.<\/p>\n\n\n\n

This article walks through the chromosomal change behind the condition, the relationship between the RB1 gene and retinoblastoma, how it differs from similarly named conditions, inheritance patterns, its relationship to prenatal diagnosis and NIPT<\/a>, and treatment and family support. Everything here is based on information from public agencies and peer-reviewed literature, so let’s go through it step by step rather than relying on fragments of information.<\/p>\n\n\n\n

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