Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/193788
Type: Artigo de periódico
Title: Two Cases Of Y; Autosome Translocations: A 45,x Male And A Clinically Trisomy 18 Patient.
Author: Farah, S B
Ramos, C F
de Mello, M P
Sartorato, E L
Horelli-Kuitunen, N
Lopes, V L
Cavalcanti, D P
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.
Subject: Base Sequence
Cells, Cultured
Child
Chromosome Banding
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 18
Dna Primers
Humans
In Situ Hybridization
Infant
Infant, Newborn
Karyotyping
Male
Molecular Sequence Data
Translocation, Genetic
Trisomy
Y Chromosome
Rights: fechado
Identifier DOI: 10.1002/ajmg.1320490407
Address: http://www.ncbi.nlm.nih.gov/pubmed/8160730
Date Issue: 1994
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

Files in This Item:
File SizeFormat 
pmed_8160730.pdf545.73 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.