EP112: Septo-optic dysplasia associated with unbalanced chromosome translocation resulting in trisomy 11q13 and monosomy 12q24.3

Abstract

Distal trisomy 11q syndrome is rare and most often associated with a translocation involving chromosome 22 (Emanuel syndrome). Patients with isolated distal trisomy 11q present with intellectual disability, short stature and microcephaly. Birth defects commonly reported with the syndrome include brain malformations, cardiac defects, diaphragmatic hernia, hip dysplasia, and micrognathia or Pierre-Robin sequence. Distal 12q deletion syndrome is even more rare, and associated with developmental delay and intellectual disability.