当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies.

Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies.

Abstract：

:Two-color fluorescence in situ hybridization (FISH) analysis using human chromosome arm-specific telomeric probes (telomeric probes) was used successfully to detect each derivative chromosome of a translocation carrier in five couples who requested a prenatal diagnosis in future pregnancies. Most of the human chromosome terminal bands are G-band-negative, and even FISH analysis using whole-chromosome painting (wcp) probes are often of insufficient complexity to detect subtle chromosomal changes. A complete set of human telomeric probes was developed to improve the sensitivity of diagnosis of microdeletions or other cryptic rearrangements in telomeric regions. Two-color telomeric FISH was the only possible method for precise prenatal diagnosis of one of the couples, because the carrier's chromosomal aberration was too subtle to be detected by wcp FISH or conventional methods. We have demonstrated that two-color telomeric FISH has the potential to be a powerful new tool in the detection of cryptic chromosomal rearrangements involving telomeric regions in prenatal diagnosis precisely and in time.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Wakui K,Tanemura M,Suzumori K,Hidaka E,Ishikawa M,Kubota T,Fukushima Y

doi

10.1007/s100380050115

keywords:

subject

Has Abstract

pub_date

1999-01-01 00:00:00

pages

85-90

issue

2

eissn

1434-5161

issn

1435-232X

journal_volume

44

pub_type

杂志文章

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