Isodicentric Y chromosome in an Ullrich-Turner patient without virilization.
Am J Med Genet
; 91(2): 99-101, 2000 Mar 13.
Article
em En
| MEDLINE
| ID: mdl-10748405
ABSTRACT
We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y-derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism).
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Síndrome de Turner
/
Cromossomo Y
/
Proteínas Nucleares
/
Isocromossomos
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2000
Tipo de documento:
Article