Scientific Article 🇬🇧 Mentions KS

Prenatal diagnosis of a familial 7q36.1q36.2 duplication with no apparently phenotypic abnormality in the carrier members in the family

person Chih-Ping Chen, Taiwanese Journal of Obstetrics and Gynecology

calendar_today Nov 1, 2026

Case report: prenatal array CGH found a 7q36.1-q36.2 duplication in a fetus, inherited through three apparently unaffected generations; the baby was normal at 4 months. The duplicated region involved KMT2C and DPP6, genes where loss or mutation can cause developmental disorders including Kleefstra syndrome-2. The authors suggest extra copies were not pathogenic in this family.