Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/52540
Type: Artigo de periódico
Title: 2 CASES OF YAUTOSOME TRANSLOCATIONS - A 45,X MALE AND A CLINICALLY TRISOMY-18 PATIENT
Author: FARAH, SB
RAMOS, CF
DEMELLO, MP
SARTORATO, EL
HORELLIKUITUNEN, N
LOPES, VLGS
CAVALCANTI, DP
HACKEL, C
Abstract: We report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time. (C) 1994 Wiley-Liss, Inc.
Subject: CHROMOSOME Y-SPECIFIC PROBES
NORMAL EXTERNAL GENITALIA
Editor: Wiley-liss
Rights: fechado
Identifier DOI: 10.1002/ajmg.1320490407
Date Issue: 1994
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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