Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/194720
Type: Artigo de periódico
Title: Molecular Mapping Of An Idic(yp) Chromosome In An Ullrich-turner Patient.
Author: Godoy Assumpção, J
Hackel, C
Marques-De-Faria, A P
Palandi de Mello, M
Abstract: We describe a woman with Ullrich-Turner manifestations and a 45,X/46, X,+mar karyotype. Fluorescence in situ hybridization (FISH) and DNA analysis were carried out in order to determine the origin and structure of the marker. FISH showed that the marker was a Y-derived dicentric chromosome. The breakpoint at Yq11 (interval 6) was mapped using Southern blotting and polymerase chain reaction (PCR). There were no nucleotide alterations in the SRY conserved domain. Histological analysis of the gonads showed an ovarian-like stroma with no signs of testicular tissue. These findings indicate that the patient was a mosaic 45,X/46,X,idic(Yp) whose phenotypic expression, including sex determination, appeared to have had more influence from the 45,X cell line.
Subject: Adult
Blotting, Southern
Chromosome Banding
Female
Genetic Markers
Humans
In Situ Hybridization, Fluorescence
Isochromosomes
Karyotyping
Male
Models, Genetic
Polymerase Chain Reaction
Sequence Tagged Sites
Turner Syndrome
Y Chromosome
Rights: fechado
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/10748404
Date Issue: 2000
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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