Pure Duplication 1q41-qter: Further Delineation of Trisomy 1q Syndromes

被引：26

作者：

Kulikowski, Leslie Domenici ^{[1
]}

Bellucco, Fernanda T. S. ^{[1
]}

Nogueira, Sintia I. ^{[1
]}

Christofolini, Denise M. ^{[1
]}

Smith, Marilia de A. C. ^{[1
]}

de Mello, Claudia B. ^{[2
]}

Brunoni, Decio ^{[1
,3
]}

Melaragno, Maria Isabel ^{[1
]}

机构：

[1] Univ Fed Sao Paulo, Dept Morfol & Genet, BR-04023900 Sao Paulo, Brazil

[2] Univ Fed Sao Paulo, Dept Psychobiol, BR-04023900 Sao Paulo, Brazil

[3] Univ Mackenzie, Ctr Biol & Hlth Sci, Sao Paulo, Brazil

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 20期

关键词：

duplication; 1q41; trisomy; 1q; mental retardation; FISH-BACs;

D O I：

10.1002/ajmg.a.32510

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case Of pure duplication 1q41-qter in the literature. (C) 2008 Wiley-Liss, Inc.

引用

页码：2663 / 2667

页数：5

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