A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
; : 151-154, 2008.
Article
em Ko
| WPRIM
| ID: wpr-92505
Biblioteca responsável:
WPRO
ABSTRACT
A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic examination showed a small uterus with indistinct streak gonads, but both ovaries were not detected. Cytogenetic study revealed 46,XY. In FISH and PCR, the sex-determining region of Y chromosome (SRY) was not detected. We report here a case of 46,XY pure gonadal dysgenesis with loss of the SRY.
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Texto completo:
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Índice:
WPRIM
Assunto principal:
Reação em Cadeia da Polimerase
/
Hibridização in Situ Fluorescente
/
Deleção de Genes
/
Genes sry
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Cromossomos Humanos Y
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Disgenesia Gonadal 46 XY
/
Cariotipagem
Limite:
Adult
/
Female
/
Humans
Idioma:
Ko
Revista:
The Korean Journal of Laboratory Medicine
Ano de publicação:
2008
Tipo de documento:
Article