De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

被引：9

作者：

Battisti, C

Bonaglia, MC

Giglio, S

Anichini, C

Pucci, L

Dotti, MT

Zuffardi, O

Federico, A

机构：

[1] Univ Siena, OU Neurometab Dis, Res Ctr Diag Therapy & Prevent Neurohandicap, Policlin Le Scottie, I-53100 Siena, Italy

[2] Univ Siena, Inst Pediat, I-53100 Siena, Italy

[3] IRCCS E Medea, Bosisio Parini, Lecce, Italy

[4] Univ Pavia, I-27100 Pavia, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 117A卷 / 03期

关键词：

chromosome rearrangements; mental retardation; axillary pterigium; camptodactily;

D O I：

10.1002/ajmg.a.10149

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints. (C) 2003 Wiley-Liss, Inc.

引用

页码：207 / 211

页数：5

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