Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

被引：54

作者：

Hammond, Peter ^{[1
]}

Hannes, Femke ^{[2
]}

Suttie, Michael ^{[1
]}

Devriendt, Koen ^{[2
]}

Vermeesch, Joris Robert ^{[2
]}

Faravelli, Francesca ^{[3
]}

Forzano, Francesca ^{[3
]}

Parekh, Susan ^{[4
]}

Williams, Steve ^{[5
]}

McMullan, Dominic ^{[6
]}

South, Sarah T. ^{[7
]}

Carey, John C. ^{[7
]}

Quarrell, Oliver ^{[5
]}

机构：

[1] UCL Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

[2] Univ Leuven, Ctr Human Genet, Louvain, Belgium

[3] EO Ospedali Galliera, SC Genet Umana, Genoa, Italy

[4] UCL Eastman Dent Inst, London, England

[5] Sheffield Childrens Hosp, Dept Clin Genet, Sheffield, S Yorkshire, England

[6] Birmingham Womens Hosp, Dept Cytogenet, Birmingham, W Midlands, England

[7] Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 01期

基金：

美国国家卫生研究院;

关键词：

Wolf-Hirschhorn syndrome; facial dysmorphism; 3D shape analysis; CRITICAL REGION; FACE SHAPE; DELETION; MICRODELETION; 4P16.3; WHS; CGH; TRANSLOCATIONS; DYSMORPHOLOGY; MORPHOLOGY;

D O I：

10.1038/ejhg.2011.135

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf-Hirschhorn syndrome facial phenotype. European Journal of Human Genetics (2012) 20, 33-40; doi: 10.1038/ejhg.2011.135; published online 27 July 2011

引用

页码：33 / 40

页数：8

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