Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
复制标题
Smith-Magenis 综合征缺失：通过荧光原位杂交解决了细胞遗传学结果模棱两可的病例。
DOI：
10.1002/ajmg.1320580317
复制
发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Baldini,A
中科院分区：
文献类型：
--
作者：
Juyal,RC;Greenberg,F;Mengden,GA;Lupski,JR;Trask,BJ;vandenEngh,G;Lindsay,EA;Christy,H;Chen,KS;Baldini,A
17p11.2区域的标记物的可用性使得能够通过荧光原位杂交（FISH）诊断史密斯-马格尼斯综合征（SMS）。SMS通常与在400-550条带分辨率下进行细胞遗传学分析时条带17p11.2的可辨别缺失相关。我们提出的一个案例，说明了使用FISH确认del（17）（p11.2）的细胞遗传学诊断的重要性。进行了四次独立的细胞遗传学分析，得出不同的结论。红细胞和外周血淋巴细胞的低分辨率分析结果明显正常，而两个实验室的外周血样本的高分辨率分析表明del（17）（p11.2）具有嵌合性。FISH清楚地显示了所有分析的外周血细胞的一条染色体上的17 p缺失，并明确地排除了嵌合体。通过流式细胞术定量染色体DNA含量检测不到缺失，表明其小于2 Mb。我们的结论是，FISH应该被用来检测SMS缺失时，常规染色体分析未能检测到它，并验证嵌合体。© 1995 Wiley利斯公司
The availability of markers for the 17p11.2 region has enabled the diagnosis of Smith‐Magenis syndrome (SMS) by fluorescence in situ hybridization (FISH). SMS is typically associated with a discernible deletion of band 17p11.2 upon cytogenetic analysis at a resolution of 400–550 bands. We present a case that illustrates the importance of using FISH to confirm a cytogenetic diagnosis of del(17)(p11.2). Four independent cytogenetic analyses were performed with different conclusions. Results of low resolution analyses of amniocytes and peripheral blood lymphocytes were apparently normal, while high resolution analyses of peripheral blood samples in two laboratories indicated mosaicism for del(17)(p11.2). FISH clearly demonstrated a 17p deletion on one chromosome of all peripheral blood cells analyzed and ruled out mosaicism unambiguously. The deletion was undetectable by flow cytometric quantitation of chromosomal DNA content, suggesting that it is less than 2 Mb. We conclude that FISH should be used to detect the SMS deletion when routine chromosome analysis fails to detect it and to verify mosaicism. © 1995 Wiley‐Liss, Inc.