一名患有8号染色体三体嵌合体表现的患者中存在源自8号染色体的微小标记染色体的嵌合体现象。

Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism.

作者信息

Spinner N B, Grace K R, Owens N L, Sovinsky L, Pellegrino J E, McDonald-McGinn D, Zackai E

机构信息

Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.

出版信息

Am J Med Genet. 1995 Mar 13;56(1):22-4. doi: 10.1002/ajmg.1320560107.

DOI:10.1002/ajmg.1320560107

PMID:7747780

Abstract

We describe a patient with manifestations of the mosaic trisomy 8 syndrome and mosaicism for a minute marker chromosome. Fluorescence in situ hybridization (FISH) with a chromosome 8 probe confirmed that the marker was derived from chromosome 8. This is the smallest piece of chromosome 8 to be reported in a patient with mosaic trisomy 8 syndrome. When the clinical picture is strongly suggestive of trisomy for a specific chromosome region, we believe that FISH can be used to test markers in a guided, rather than random, fashion.

摘要

我们描述了一名患有嵌合型8号染色体三体综合征及一条微小标记染色体的嵌合体的患者。使用8号染色体探针进行荧光原位杂交（FISH）证实该标记物源自8号染色体。这是在嵌合型8号染色体三体综合征患者中报道的最小的8号染色体片段。当临床表现强烈提示特定染色体区域三体时，我们认为FISH可用于以有指导而非随机的方式检测标记物。