A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

Abstract excerpt

Whole genome profiling such as array comparative genomic hybridization has identified novel genomic imbalances. Many of these genomic imbalances have since been shown to associate with developmental delay, intellectual disability and congenital malformation. Here we identified five unrelated individuals who have a recurrent 1.71 Mb deletion/duplication at 2q13 (Human Genome Build 19: 111,392,197-113,102,594)....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital Ear and Nasal Anomalies
• Share to Congenital heart defects research
• Share to Genomic variations and chromosomal abnormalities