Xq21.1q21.31 Duplication in Two Male Siblings

Molecular syndromology

article

Sherlaw-Sturrock, Charlotte Ann¹  Graham, Sarah²  Morgan, Anita³  Reali, Lisa²  Naik, Swati¹ 

[1] Department of Clinical Genetics, Birmingham Women’s and Children’s NHS Foundation Trust;West Midlands Regional Genetics Laboratory, Birmingham Women’s and Children’s NHS Foundation Trust;Department of Paediatrics, University Hospitals Coventry and Warwickshire NHS Trust

关键词: Array CGH;    Autism;    Dysmorphic facial features;    Microduplication syndrome;    Xq21.1q21.31 duplication;   

DOI  :  10.1159/000518933

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Despite the increased use of array comparative genomic hybridisation, duplications of Xq remain rarely reported in the literature. Xq21.1q21.31 duplication has previously been reported only once in a boy with features of Prader Willi syndrome (PWS). We report 2 malesiblings with maternally inherited duplication of Xq21.1q21.31 who demonstrate a variable phenotype. The proband has Prader Willi-like features such as global developmental delay, autism, obesity, short hands, and small genitalia with a history of food seeking behaviour, while his younger brother has isolated speech delay with some autistic features under evaluation. Both siblings have features such as bitemporal narrowing and small hands. It is therefore likely that the phenotype of duplications in this region is broader than PWS phenocopy, and further cases would be required to elucidate this.

【 授权许可】

CC BY