Familial 7q11.23 duplication with variable phenotype

被引：9

作者：

Patil, Siddaramappa J. ^{[1
]}

Salian, Smrithi ^{[2
]}

Bhat, Venkaraman ^{[3
]}

Girisha, Katta Mohan ^{[2
]}

Shrivastava, Yash ^{[4
]}

Vs, Kiran ^{[4
]}

Sapare, Anilkumar ^{[5
]}

机构：

[1] Narayana Multispecialty Hosp, Dept Med Genet, Bangalore, Karnataka, India

[2] Manipal Univ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India

[3] Narayana Multispecialty Hosp, Dept Radiol, Bangalore, Karnataka, India

[4] Narayana Inst Cardiac Sci, Dept Pediat Cardiol, Bangalore, Karnataka, India

[5] Narayana Multispecialty Hosp, Dept Pediat, Bangalore, Karnataka, India

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 11期

关键词：

7q11; 23; duplication; macrocephaly; congenital heart disease; dsygenesis and hypoplasia corpus callosum; hypoplasia of left cerebellum; EXPRESSIVE-LANGUAGE DELAY; BEUREN-SYNDROME REGION; MENTAL-RETARDATION; MICRODUPLICATION SYNDROME; DYSMORPHIC FEATURES; SPECTRUM; PATIENT; AUTISM; DELETION; SPEECH;

D O I：

10.1002/ajmg.a.37226

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Chromosomal microdeletions and microduplications are known to cause variable clinical features ranging from apparently normal phenotype to intellectual disability, multiple congenital anomalies, and/or other variable clinical features. 7q11.23 region deletion is the cause for Williams-Beuren syndrome and duplication of same region 7q11.23 causes distinguishable clinical phenotype. Familial inheritance is known for both microdeletion and microduplication of 7q11.23 region. Here, we report a patient of paternally inherited 7q11.23 microduplication with developmental delay, macrocephaly, and structural brain malformations. (c) 2015 Wiley Periodicals, Inc.

引用

页码：2727 / 2730

页数：4

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