7q11.23 Microduplication: a recognizable phenotype

被引：27

作者：

Dixit, A. ^{[1
]}

McKee, S. ^{[2
]}

Mansour, S. ^{[3
]}

Mehta, S. G. ^{[4
]}

Tanteles, G. A. ^{[5
]}

Anastasiadou, V. ^{[5
]}

Patsalis, P. C. ^{[5
]}

Martin, K. ^{[6
]}

McCullough, S. ^{[7
]}

Suri, M. ^{[1
]}

Sarkar, A. ^{[1
]}

机构：

[1] City Hosp Nottingham, Dept Clin Genet, Nottingham NG5 1PB, England

[2] Belfast City Hosp, No Ireland Reg Genet Serv, Belfast BT9 7AD, Antrim, North Ireland

[3] Univ London, SW Thames Reg Genet Serv, London, England

[4] Addenbrookes Hosp, E Anglian Med Genet Serv, Cambridge, England

[5] Cyprus Inst Neurol & Genet, Nicosia, Cyprus

[6] City Hosp Nottingham, Dept Cytogenet, Nottingham NG5 1PB, England

[7] Belfast City Hosp, Dept Cytogenet, Belfast BT9 7AD, Antrim, North Ireland

来源：

CLINICAL GENETICS | 2013年 / 83卷 / 02期

关键词：

autism spectrum disorder; 7q11; 23; microduplication; speech delay; Williams-Beuren critical region; EXPRESSIVE-LANGUAGE DELAY; WILLIAMS-BEUREN REGION; MENTAL-RETARDATION; INCLUDING DUPLICATIONS; DYSMORPHIC FEATURES; AUTISM; TRIPLICATION; SPECTRUM; PATIENT; SPEECH;

D O I：

10.1111/j.1399-0004.2012.01862.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. 7q11.23 Microduplication: a recognizable phenotype. Williams-Beuren syndrome is a well-known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams-Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism consistent with the published literature. We conclude that the presence of specific dysmorphic features, including straight, neat eyebrows, thin lips and a short philtrum, in our patients with speech delay and autistic features provides further evidence that the children with 7q11.23 microduplication have a recognizable phenotype.

引用

页码：155 / 161

页数：7

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