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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
Chromosome Banding
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 18
Dna Primers
In Situ Hybridization
Infant, Newborn
Molecular Sequence Data
Translocation, Genetic
Y Chromosome
Citation: American Journal Of Medical Genetics. v. 49, n. 4, p. 388-92, 1994-Feb.
Rights: fechado
Identifier DOI: 10.1002/ajmg.1320490407
Date Issue: 1994
Appears in Collections:Unicamp - Artigos e Outros Documentos

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