Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGH

Abstract excerpt

We report on a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q31.2-2q32.3. The patient shows severe mental retardation, absence of speech, sleep disturbances, behavioral problems, and some dysmorphic features. In particular, he presents with macrocephaly, high forehead, thick and coarse hair, thick eyebrows, synophrys, increased inner and outer canthal distance,...

Topics

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

• Share to Congenital Ear and Nasal Anomalies
• Share to Genetics and Neurodevelopmental Disorders
• Share to Genomic variations and chromosomal abnormalities