204 1p36 Deletion syndrome – A case report

Abstract

Introduction and aims of the study: 1p36 deletion syndrome is the most common terminal deletion in humans, occurring in 1:5000 births, predominantly on females. Most cases are sporadic; a minority is associated with chromosomal duplication. Clinical features include craniofacial dysmorphisms, hypotonia, development delay, epilepsy, hearing loss and also cardiac, cerebral, visual, skeletal and urogenital anomalies. Although phenotypes cannot be identified prenatally, genetic diagnosis is possible after identification of ultrasound fetal anomalies, which include growth retardation, cardiac malformations and other structural anomalies.