Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

被引：19

作者：

de Ravel, Thomy J. ^{[1
]}

Balikova, Irina ^{[1
]}

Thiry, Paul ^{[2
]}

Vermeesch, Joris R. ^{[1
]}

Frijns, Jean-Pierre ^{[1
]}

机构：

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

[2] Vzw Stijn Sint Oda, Overpelt, Belgium

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2009年 / 52卷 / 2-3期

关键词：

Chromosome; 2; Deletion; 2q33; Array CGH; Mental retardation; Behavioural problems; Hyperactivity; Microcephaly; Short stature; Microstomia; Lipodystrophy; MOLECULAR CHARACTERIZATION;

D O I：

10.1016/j.ejmg.2009.01.002

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A male patient, who had intra-uterine growth retardation, a low birth weight and hypotonia due to a chromosome 2q33.1 deletion, is described. At the age of 20 years, he displays short stature, microcephaly, a high forehead, microstomia, large teeth and is hypertonic. He is severely mentally retarded, has not developed speech, is hyperactive, anxious and at times aggressive. Full tiling array showed a de novo 14 Mb deletion at chromosome region 2q32.3q33.2, further delineating the 2q33.1 microdeletion syndrome. (C) 2009 Elsevier Masson SAS. All rights reserved.

引用

页码：120 / 122

页数：3

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