Xq21.1q21.31 Duplication in Two Male Siblings

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Karger

外文摘要：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.

外文关键词：

Array CGHAutismDysmorphic facial featuresMicroduplication syndromeXq21.1q21.31 duplication

作者：

Charlotte Ann,Sherlaw-Sturrock、Sarah,Graham、Anita,Morgan、Lisa,Reali、Swati,Naik

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作者单位：

Department of Clinical Genetics, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham

West Midlands Regional Genetics Laboratory, Birmingham Women’s and Children’s NHS Foundation Trust

Department of Paediatrics, University Hospitals Coventry and Warwickshire NHS Trust, Coventry

出版年：

2022

DOI：

10.1159/000518933

Molecular syndromology

SCI

ISSN：1661-8769

年,卷(期)：2022.13(2)

参考文献量22