Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review

被引：11

作者：

Blanc, Pierre ^{[1
,2
]}

Gouas, Laetitia ^{[3
]}

Francannet, Christine ^{[4
]}

Giollant, Michel ^{[3
]}

Vago, Philippe ^{[2
,3
]}

Goumy, Carole ^{[2
,3
]}

机构：

[1] CHU Clermont Ferrand, Serv Biochim Biol Mol, Fac Med, F-63001 Clermont Ferrand 1, France

[2] Univ Clermont 1, Fac Med, Clermont Ferrand, France

[3] CHU Clermont Ferrand, Serv Cytogenet Med, F-63001 Clermont Ferrand, France

[4] CHU Clermont Ferrand, Gen Med Serv, Clermont Ferrand, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 10期

关键词：

trisomy; 20q; interstitial duplication; developmental disabilities; ventricular septal defect; comparative genomic hybridization;

D O I：

10.1002/ajmg.a.32278

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 3-year-old boy with moderate developmental delay, abnormal craniofacial features and ventricular septal defect resulting from trisomy of the long arm of chromosome 20. The cytogenetic defect consists of a de novo isolated interstitial duplication in distal 20q [dup(20)(q13.2q13.2)]. The duplication was detected by comparative genomic hybridization (CGH) and confirmed by array CGH. Other cases of comparable trisomies are reviewed. This new case further delineates the recognizable phenotype of trisomy 20q13 -> 20qter and highlights the relevance of CGH for the detection of such rearrangements. (C) 2008 Wiley-Liss, Inc.

引用

页码：1307 / 1311

页数：5

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