{"id":85473,"date":"2024-11-14T14:20:23","date_gmt":"2024-11-14T05:20:23","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q11-23-deletion-distal-syndrome\/"},"modified":"2026-07-12T21:23:26","modified_gmt":"2026-07-12T12:23:26","slug":"7q11-23-deletion-distal-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q11-23-deletion-distal-syndrome\/?lang=en","title":{"rendered":"7q11.23 Distal Deletion Syndrome"},"content":{"rendered":"\n

Seeing the diagnosis “distal 7q11.23 deletion syndrome” for the first time, you may feel unsettled by such an unfamiliar term.<\/strong><\/p>\n\n\n\n

Here is the conclusion up front: this condition is a distinct, rare genetic disorder in which the region deleted on chromosome 7’s long arm at 11.23 sits farther toward the end (distal) than the region responsible for the well-known Williams syndrome.<\/strong> Epilepsy, developmental delay, and behavioral traits are the central features, while the cardiac disease and distinctive facial appearance typical of Williams syndrome are not necessarily prominent.<\/p>\n\n\n\n

This article walks through the underlying chromosomal change, how it differs from Williams syndrome, its symptoms, inheritance pattern, its relationship to prenatal diagnosis and NIPT<\/a>, and treatment and support options \u2014 all based on information from public health authorities and peer-reviewed literature. Rather than being swayed by scattered pieces of information, let’s work through this one step at a time.<\/p>\n\n\n\n

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\ud83d\udca1 What You’ll Learn in This Article<\/p>\n