导致史密斯-马吉尼斯综合征的17号染色体（p11.2p11.2）缺失嵌合体。

Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome.

作者信息

Juyal R C, Kuwano A, Kondo I, Zara F, Baldini A, Patel P I

机构信息

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.

出版信息

Am J Med Genet. 1996 Dec 11;66(2):193-6. doi: 10.1002/(SICI)1096-8628(19961211)66:2<193::AID-AJMG13>3.0.CO;2-O.

DOI:10.1002/(SICI)1096-8628(19961211)66:2<193::AID-AJMG13>3.0.CO;2-O

PMID:8958329

Abstract

Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cytogenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybridization (FISH) has been previously used to rule out apparent mosaicism for del(17)(p11.2p11.2) indicated by routine cytogenetics. We now report mosaicism for del(17)(p11.2p11.2) in a child with SMS. The mosaicism had gone undetected during previous routine cytogenetic analysis. FISH analysis of peripheral lymphocytes as well as immortalized lymphoblasts using markers from 17p11.2 revealed that approximately 60% of cells carried the deletion. To our knowledge, this is the first case of SMS associated with mosaicism for del(17)(p11.2p11.2).

摘要

史密斯-马吉尼斯综合征（SMS）是一种与17号染色体p11.2带缺失相关的多发性先天性异常/智力发育迟缓综合征。这种缺失通常通过对外周血淋巴细胞染色体进行高分辨率细胞遗传学分析来检测。荧光原位杂交（FISH）先前已被用于排除常规细胞遗传学显示的del(17)(p11.2p11.2)明显嵌合体现象。我们现在报告一名患有SMS的儿童存在del(17)(p11.2p11.2)嵌合体。在之前的常规细胞遗传学分析中，这种嵌合体未被发现。使用来自17p11.2的标记对外周血淋巴细胞以及永生化淋巴母细胞进行FISH分析发现，约60%的细胞携带该缺失。据我们所知，这是首例与del(17)(p11.2p11.2)嵌合体相关的SMS病例。