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Multicolour spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies
Author(s) -
Tanemura Mitsuyo,
Suzumori Kaoru,
Nishikawa Naomi,
Ishihara Yoshimori
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.183
Subject(s) - karyotype , fluorescence in situ hybridization , chromosomal translocation , cytogenetics , molecular cytogenetics , biology , chromosomal rearrangement , chromosome , prenatal diagnosis , genetics , microbiology and biotechnology , fetus , pregnancy , gene
Advances in molecular cytogenetics, especially the technique of fluorescence in situ hybridization (FISH), have allowed more precise definition of chromosomal structures, which are difficult to identify using conventional G‐banding. Recently, a novel approach based on hybridization of 24 fluorescent‐labelled chromosome painting probes was developed, termed spectral karyotyping (SKY), which allows the simultaneous and differential colour display of all human chromosomes. We have used SKY to identify not only five parental complex translocation carriers but also minute chromosome rearrangements in the fetus. Here, we concentrate attention on the clinical application of SKY for prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.