一名染色体区域20q11.2至20q12三体患者的报告及荧光原位杂交（FISH）特征分析

Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH.

作者信息

Wanderley H Y C, Schrander-Stumpel C T R M, Visser M O J M, Van Maanen-Op Het Roodt E A M, Loneus W H, Engelen J J M

机构信息

Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.

出版信息

Genet Couns. 2005;16(3):277-82.

PMID:16259325

Abstract

We report on a 16-month-old boy presenting with psychomotor retardation, craniofacial anomalies and severe vision deficit. Analysis of GTG-banded chromosomes showed that the patient had extra chromosomal material in the long arm of one chromosome 20. This chromosome aberration was further characterized with FISH using a chromosome 20 specific paint and band-specific probes. A partial trisomy 20q was shown to be present, the karyotype being 46, XY, dup (20) (q11.2q12). The cytogenetic and clinical findings are compared with cases previously reported in the literature.

摘要

我们报告了一名16个月大的男孩，其表现为精神运动发育迟缓、颅面畸形和严重视力缺陷。对GTG带染色体的分析显示，该患者在一条20号染色体的长臂上有额外的染色体物质。使用20号染色体特异性涂染探针和带特异性探针的荧光原位杂交（FISH）对这种染色体畸变进行了进一步表征。结果显示存在部分20q三体，核型为46, XY, dup(20)(q11.2q12)。将细胞遗传学和临床发现与文献中先前报道的病例进行了比较。