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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.

作者信息

Qu J, Dallaire L, Fetni R, Richer C L

机构信息

Service de Génétique Médicale, Hôpital Ste-Justine, Montréal, Québec, Canada.

出版信息

Prenat Diagn. 1992 Nov;12(11):909-17. doi: 10.1002/pd.1970121110.

DOI:10.1002/pd.1970121110
PMID:1494544
Abstract

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.

摘要

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