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Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

Identifieur interne : 00E024 ( Main/Exploration ); précédent : 00E023; suivant : 00E025

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

Auteurs : Michael A. Cantrell [États-Unis] ; James N. Bicknell [États-Unis] ; Roberta A. Pagon [États-Unis] ; David C. Page [États-Unis] ; David C. Walker [États-Unis] ; Howard M. Saal [États-Unis] ; Arthur B. Zinn [États-Unis] ; Christine M. Disteche [États-Unis]

Source :

Human Genetics [ 0340-6717 ] ; 1989-08-01.

RBID : ISTEX:DE9CBF2081C2F2BDC31E94F15F66246DD20BC6B6

Abstract

Summary: The relationship between Y-chromosome abnormalities and gonadal differentiation was investigated in six phenotypic females with a 46,XY karyotype and one patient with ambiguous genitalia secondary to apparently nonmosaic 46,XY mixed gonadal dysgenesis. No alterations were found in the Y chromosomes of six of these individuals by the use of either cytogenetic or molecular techniques. Cytogenetic analysis with high-resolution G-banding and Q-banding revealed a small deletion in the short arm of the Y chromosome in one female patient with some features of Turner syndrome. Southern hybridization with Y-specific probes showed a loss of DNA within deletion intervals 1, 2, and 3 of the Y chromosome. A new Y-chromosome-specific DNA probe that hybridizes to deletion interval 3 is described.

Url:

https://api.istex.fr/document/DE9CBF2081C2F2BDC31E94F15F66246DD20BC6B6/fulltext/pdf

DOI: 10.1007/BF00274156

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">Summary: The relationship between Y-chromosome abnormalities and gonadal differentiation was investigated in six phenotypic females with a 46,XY karyotype and one patient with ambiguous genitalia secondary to apparently nonmosaic 46,XY mixed gonadal dysgenesis. No alterations were found in the Y chromosomes of six of these individuals by the use of either cytogenetic or molecular techniques. Cytogenetic analysis with high-resolution G-banding and Q-banding revealed a small deletion in the short arm of the Y chromosome in one female patient with some features of Turner syndrome. Southern hybridization with Y-specific probes showed a loss of DNA within deletion intervals 1, 2, and 3 of the Y chromosome. A new Y-chromosome-specific DNA probe that hybridizes to deletion interval 3 is described.</div>
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Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

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Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri