Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis.
Birth Defects Res A Clin Mol Teratol
; 94(4): 245-8, 2012 Apr.
Article
em En
| MEDLINE
| ID: mdl-22282126
ABSTRACT
Coexistence of XX/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv9[47]/47,XY,+13[13] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Aberrações dos Cromossomos Sexuais
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Trissomia
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Cromossomos Humanos Par 13
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Cromossomos Humanos X
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Cromossomos Humanos Y
/
Mosaicismo
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
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Male
/
Pregnancy
Idioma:
En
Revista:
Birth Defects Res A Clin Mol Teratol
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Grécia