Advances in laboratory evaluation of Turner syndrome and its variants: beyond cytogenetics studies.
Indian J Pediatr
; 67(11): 825-9, 2000 Nov.
Article
em En
| MEDLINE
| ID: mdl-11216383
ABSTRACT
Turner syndrome is a clinically defined phenotype that is characterized by partial or complete X chromosome monosomy. A host of cytogenetic aberrations and mosaicism have been associated with this syndrome. Some individuals, Turner syndrome variants, have cytogenetic findings consistent with Turner syndrome, but exhibit atypical clinical phenotypes. Recently, several molecular tests have been presented to allow for the refined clinical study of Turner syndrome and its variants.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Turner
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article