A novel mosaic 22q11.2 micro-duplication syndrome: clinical report and literature review. Cerebro-oculo-facio-urethrogenito-skeletal syndrome: de novo condition

被引：0

作者：

Khosroshahi, Hashem E. ^{[1
]}

Ozdamar, Mustafa Yasar ^{[2
]}

Tukun, Fatma Ajlan ^{[3
]}

Ozkan, Esra Akyuz ^{[4
]}

Yararbas, Kanay ^{[5
]}

Adam, Mehmet ^{[6
]}

机构：

[1] Bozok Univ, Dept Pediat Cardiol, Fac Med, Yozgat, Turkey

[2] Bozok Univ, Dept Pediat Surg, Fac Med, Yozgat, Turkey

[3] Ankara Univ, Dept Med Genet, Fac Med, Ankara, Turkey

[4] Bozok Univ, Dept Pediat, Fac Med, Yozgat, Turkey

[5] Duzen Labs Grp, Dept Med Genet, Istanbul, Turkey

[6] Bozok Univ, Dept Ophtalmol, Fac Med, Yozgat, Turkey

来源：

INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE | 2016年 / 9卷 / 06期

关键词：

22q11.2; hypospadias; microduplication; microphtalmia; microcornea; COPY NUMBER VARIANTS; MICRODUPLICATION; 22Q11.2; COGNITIVE DEFICITS; DELETION SYNDROME; CHROMOSOME; DISTAL; CHILD; FAMILY; VARIABILITY; SPECTRUM;

D O I：

暂无

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

22q11.2 duplication syndrome (OMIM # 608363) was first described by Edelmann in 1999 and later by other groups. The syndrome presented with clinically normal to varied spectrum of multisystem involvement. The 22q11.2 duplication syndrome in comparison to the 22q11.2 micro-deletion is a relatively rare condition which inherited autosomal dominantly or may occur as de novo condition. This article intends to present a mosaic 22q11.2 microduplication syndrome with novel cerebro-oculo-facio-urethrogenito-skeletal presentation and reviews the literature.

引用

页码：9734 / 9743

页数：10