Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: Identification of chromosomal translocation in five families with ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1999-03-01

AUTHORS

Keiko Wakui, Mitsuyo Tanemura, Kaoru Suzumori, Eiko Hidaka, Masayo Ishikawa, Takeo Kubota, Yoshimitsu Fukushima

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. More... »

PAGES

85

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s100380050115

DOI

http://dx.doi.org/10.1007/s100380050115

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1028153905

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10083730


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