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

Molecular Syndromology

A.-C. Thuresson¹  S.A. Lynch¹  G. Annerén¹  E.-L. Stattin¹  F.H. Sharkey¹  C. Wentzel¹ 

[1]aDepartment of Genetics and Pathology, Uppsala University, Uppsala, Sweden

关键词: 6q Deletion;    Learning disability;    Mental retardation;    Obesity;   

DOI  :  10.1159/000314025

学科分类：基础医学

来源: S Karger AG

【 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.

【 授权许可】

Unknown