Partial trisomy 1q(1q32→1qter) in adulthood:: Further delineation of the phenotype

被引：0

作者：

Van Buggenhout, G

De Coen, L

Fryns, JP

机构：

[1] Katholieke Univ Leuven Hosp, Ctr Human Genet, B-3000 Louvain, Belgium

[2] Inst Michielsheem, B-1700 Dilbeek, Belgium

来源：

ANNALES DE GENETIQUE | 1998年 / 41卷 / 02期

关键词：

chromosome; 1; 8; trisomy; 1q; mental retardation;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Trisomy Iq is a rare condition frequently reported in association with other chromosomal abnormalities. An adult female patient had partial trisomy of the long arm of chromosome 1 (1q32.3 --> qter) and partial monosomy of the short arm of chromosome 8 (8p23 -->pter) of de novo origin. Clinical features in adulthood included mental retardation, short stature, long narrow face, brachycephaly, synophrys, small downward slanting palpebral fissures and long nose. Standard cytogenetic techniques in combination with fluorescence in situ hybridisation (FISH) studies were performed to determine the origin of the extra chromosomal material.

引用

页码：77 / 81

页数：5

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