De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism

الملخص EN

A 10-year-old boy was referred with developmental delay and dysmorphism.

Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19].

This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development.

This is consistent with previously reported duplications of this region in patients with a similar phenotype.