{"id":84453,"date":"2024-11-14T14:28:28","date_gmt":"2024-11-14T05:28:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/"},"modified":"2026-07-12T21:24:31","modified_gmt":"2026-07-12T12:24:31","slug":"10q26-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/10q26-deletion-syndrome\/?lang=en","title":{"rendered":"10q26 Deletion Syndrome"},"content":{"rendered":"\n

You may have encountered the diagnosis “10q26 deletion syndrome” through an NIPT<\/a> result or an ultrasound finding, and the unfamiliar terminology may feel overwhelming.<\/strong><\/p>\n\n\n\n

Here is the short answer first. This condition arises when the terminal “26” region of the long arm (q) of chromosome 10 is congenitally missing, and it is an extremely rare chromosomal disorder with roughly 100 cases reported worldwide.<\/strong> The core features are growth delay, developmental delay, distinctive facial characteristics, and genital abnormalities that are more common in males, though complications involving the heart or kidneys can also occur depending on how much of the chromosome is missing.<\/p>\n\n\n\n

This article walks through the chromosomal change that causes the condition, how it differs from similarly named disorders (deletions at other regions of chromosome 10 and a disorder on chromosome 12), its symptoms, inheritance pattern, its relationship to prenatal diagnosis and NIPT<\/a>, the path to a definitive diagnosis, and the outlook for treatment \u2014 all based on information from GARD, Orphanet, and peer-reviewed medical literature. Let’s go through it 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