Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

[摘要] Interstitial deletions of the long arm of chromosome 6 have been described in several patients with obesity and a Prader-Willi-like phenotype. Haploinsufficiency of the SIM1 gene located at 6q16.3 is suggested as being responsible for the regulation of body weight. Here we report on 2 patients with interstitial deletions at 6q14.1–q15 presenting with obesity and symptoms strikingly similar to those reported for deletions involving the SIM1 gene despite not having a deletion of this gene.

[学科分类] 基础医学

[关键词] 6q Deletion;Learning disability;Mental retardation;Obesity