Article ID Journal Published Year Pages File Type
4175209 Pediatrics & Neonatology 2013 5 Pages PDF
Abstract

Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25–10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract.

Related Topics
Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health
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