荧光原位杂交技术在因家族性臂间倒位导致的6p部分三体/6q单体的早期产前诊断中的应用

Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion.

作者信息

Wauters J G, Bossuyt P J, Roelen L, van Roy B, Dumon J

机构信息

Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.

出版信息

Clin Genet. 1993 Nov;44(5):262-9. doi: 10.1111/j.1399-0004.1993.tb03894.x.

DOI:10.1111/j.1399-0004.1993.tb03894.x

PMID:8313624

Abstract

We report the prenatal diagnosis of a karyotype 46,XY,rec(6)dup p, inv(6) (p23q27) mat detected by fluorescence in situ hybridization using chromosome 6pter and 6qter specific DNA markers. This partial duplication-deletion (6p12-->pter; 6q27-->qter) emanated from a balanced pericentric inversion 46,XX inv(6) (p23q27)pat present in the mother. The phenotypes of two relatives with the same unbalanced anomaly are described. This report illustrates the sensitivity and specificity of fluorescence in situ hybridization (FISH) and its benefit in rapid and unequivocal prenatal diagnosis of subtle chromosomal rearrangements.

摘要

我们报告了一例通过使用6号染色体短臂末端和长臂末端特异性DNA标记的荧光原位杂交技术检测到的核型为46,XY,rec(6)dup p, inv(6) (p23q27) mat的产前诊断病例。这种部分重复-缺失（6p12→短臂末端；6q27→长臂末端）源自母亲携带的平衡臂间倒位46,XX inv(6) (p23q27)pat。描述了两名具有相同不平衡异常的亲属的表型。本报告说明了荧光原位杂交（FISH）的敏感性和特异性及其在快速明确诊断细微染色体重排的产前诊断中的益处。