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De novo duplication of 7pter-->p21.2 and deletion of 9pter-->p23.5: clinical and cytogenetic diagnosis.

作者信息

Back E, Jung C, Zeitler S, Schempp W

机构信息

Institut für Humangenetik und Anthropologie der Universität, Freiburg, Germany.

出版信息

Clin Genet. 1997 Jan;51(1):56-60.

PMID:9084937
Abstract

We report on a male patient with a de novo derivative chromosome 9. From clinical and conventional cytogenetic data, it was assumed that the derivative chromosome might be caused by a translocation between the short arms of chromosomes 7 and 9: der(9)t(7;9)(p21.2;p23.5). Fluorescence in situ hybridization with a chromosome 7-specific and a chromosome 9-specific paint confirmed this supposition. The phenotype of the patient described is compared to cases in the literature.

摘要

相似文献

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2
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De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation.一名智力发育迟缓女孩的7号染色体短臂部分三体综合征，通过亚端粒荧光原位杂交和全基因组芯片分析得以确诊。
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