Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes.-猫眼课题宝

使用染色体特异性 DNA 探针确定 45,X/46,X, mar 两个病例中小标记染色体的起源和结构畸变。

DOI：

发表时间：

1990

期刊：

American journal of medical genetics

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通讯作者：

中科院分区：

文献类型：

作者：

C. Lin;Juliane Meyne;R. Sasi;Peter Bowen;T. Unger;T. Tainaka;Teresa A. Hadro;Joe J. Hoo

一个17岁的女孩（S.M.）一个13岁的女孩（C.L.）Ullrich-Turner综合征（UTS）均为45，X/46，X，+maraisy。这两个病人的标记染色体都很小。在S.M.标记染色体存在于80%的植物血凝素刺激的淋巴细胞、28%的皮肤成纤维细胞和11-20%的性腺成纤维细胞中。在CL，在50%的刺激淋巴细胞中发现了小标记染色体。S.M.身高正常但C. L很短。与一些Y特异性DNA探针的分子杂交证实了它们在S. M.但在C. L.用Y染色体特异性DNA探针和X染色体特异性DNA探针进行原位杂交，证实了标记染色体的Y起源。C. L.生物素标记的着丝粒和端粒探针也被用于原位杂交，以显示在Y标记染色体中的着丝粒和端粒序列的存在，这表明该标记染色体的缺失是间质性的。

A 17-year-old girl (S.M.) and a 13-year-old girl (C.L.) both with Ullrich-Turner syndrome (UTS) were found to have 45,X/46,X, + mar mosaicism. The marker chromosomes in both patients were very small in size. In S.M. the marker chromosome was present in 80% of phytohemagglutinin-stimulated lymphocytes, 28% of skin fibroblasts, and 11-20% of gonadal fibroblasts. In C.L., the small marker chromosome was found in 50% of stimulated lymphocytes. S.M. is of normal height, but C.L. is short. Molecular hybridization with a number of Y-specific DNA probes demonstrated their presence in S.M. but absence in C.L. In situ hybridization with Y-specific and X-centromere-specific DNA probes confirmed the Y origin of the marker chromosome in S.M. and the X origin of the minute chromosome in C.L. Biotinylated centromere and telomere probes were also used for in situ hybridization to show the presence of centromeric and telomeric sequences in the Y-marker chromosome, suggesting that the deletion of this marker chromosome is interstitial.