A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis.
Sex Dev
; 10(1): 23-7, 2016.
Article
em En
| MEDLINE
| ID: mdl-27007510
ABSTRACT
This is the first molecular characterization of a female XY patient with an Xp duplication due to an X;22 translocation. Array CGH detected a copy number gain of â¼36 Mb in the Xp22.33p21.1 region involving 150 genes. Clinical and molecular studies described in the literature have suggested DAX1 duplication as the major cause responsible for a sex reversal phenotype. Additionally, the interaction between genes and their possible role in clinical features are presented to support the discussion on genotype-phenotype correlation in cases of syndromic XY gonadal dysgenesis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testículo
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Análise Citogenética
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Disgenesia Gonadal 46 XY
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Sex Dev
Ano de publicação:
2016
Tipo de documento:
Article