Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype.
Nat Genet
; 8(3): 243-50, 1994 Nov.
Article
em En
| MEDLINE
| ID: mdl-7874166
ABSTRACT
The critical importance of dosage compensation is underscored by a novel human syndrome ("XYXq syndrome") in which we have detected partial X disomy, demonstrated supernormal gene expression resulting from the absence of X inactivation, and correlated this overexpression with its phenotypic consequences. Studies of three unrelated boys with 46,XYq- karyotypes and anomalous phenotypes (severe mental retardation, generalized hypotonia and microcephaly) show the presence of a small portion of distal Xq on the long arm of the Y derivative. Cells from these boys exhibit twice-normal activity of glucose-6-phosphate dehydrogenase, a representative Xq28 gene product. In all three cases, the presence of Xq DNA on a truncated Y chromosome resulted from an aberrant Xq-Yq interchange occurring in the father's germline.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Cromossomo Y
/
Anormalidades Múltiplas
/
Mecanismo Genético de Compensação de Dose
/
Regulação da Expressão Gênica
/
Aberrações Cromossômicas
/
Deleção Cromossômica
/
Troca Genética
/
Deficiência Intelectual
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article