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Prenatal identification of a 45,X/46,Xder(Y) mosaicism and confirmation by high resolution cytogenetics and fluorescence in situ hybridization
Author(s) -
Qu Jingyi,
Dallaire Louis,
Fetni Raouf,
Richer ClaudeLise
Publication year - 1992
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.1970121110
Subject(s) - cytogenetics , fluorescence in situ hybridization , molecular cytogenetics , chromosomal translocation , prenatal diagnosis , chromosomal inversion , biology , karyotype , microbiology and biotechnology , gene duplication , genetics , chromosome , fetus , pregnancy , gene
A 45,X/46,Xder(Y) mosaicism detected prenatally was shown to have a rare Y inversion‐ duplication or Y/Y translocation which can only be identified by a combination of high resolution cytogenetics and fluorescence in situ hybridization. The present data indicate the usefulness and importance of chromosome‐specific probes in the identification and characterization of chromosome rearrangements.