Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
Am J Med Genet A
; 116A(2): 176-8, 2003 Jan 15.
Article
em En
| MEDLINE
| ID: mdl-12494438
ABSTRACT
We report on a 34-year-old developmentally disabled man referred to our clinic for evaluation of possible Prader-Willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, XYY karyotype and the presence of a trinucleotide repeat expansion resulting in fragile X syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in the medical literature. Review of sex chromosome abnormalities associated with fragile X syndrome and phenotypic considerations are presented.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Prader-Willi
/
Cariótipo XYY
/
Síndrome do Cromossomo X Frágil
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Estados Unidos