Clinical variability of the 22q11.2 duplication syndrome

被引：137

作者：

Wentzel, Christian ^{[1
]}

Fernstrom, Maria ^{[2
]}

Ohrner, Ylva ^{[3
]}

Anneren, Goran ^{[1
]}

Thuresson, Ann-Charlotte ^{[1
]}

机构：

[1] Uppsala Univ, Dept Genet & Pathol, SE-75185 Uppsala, Sweden

[2] Hosp Karlstad, Child Neurol & Habilitat Ctr, Karlstad, Sweden

[3] Cent Hosp Vasteras, Dept Pediat, Vasteras, Sweden

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2008年 / 51卷 / 06期

关键词：

22q11.2; Duplication; Syndrome; Mental retardation; Children; Array-CGH; MLPA;

D O I：

10.1016/j.ejmg.2008.07.005

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both patients with a de novo 22q11.2 duplication and patients in whom the duplication has been inherited from a phenotypically normal parent have been reported. In this study we present two familial cases with a 3 Mb 22q11.2 duplication detected by array-CGH. We also review the findings in 36 reported cases with the aim of delineating the phenotype of the 22q11.2 duplication syndrome. In a majority of the reported cases where parents have been tested, the duplication seems to have been inherited from a normal parent with minor abnormalities. With this in mind we recommend that family members of patients with a 22q11.2 duplication to be tested for this genetic defect. (C) 2008 Elsevier Masson SAS. All rights reserved.

引用

页码：501 / 510

页数：10

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