Del Xq23 in a mosaic Turner female: molecular and cytogenetic studies.
Ann Genet
; 44(4): 171-4, 2001.
Article
em En
| MEDLINE
| ID: mdl-11755099
We report a Turner patient aged 22 years with a 45,X/46,X,del(X)(q23) karyotype. Late replication studies showed preferential inactivation of the deleted X chromosome; FISH studies with a probe for total human telomeres showed hybridisation signal in the telomeres on both the normal and the deleted X chromosomes. Microsatellite analysis in the proposita and her family permitted us to conclude to the maternal origin of the deleted X chromosome, and to detect using the marker DXS1106 (Xq22) a probable meiotic recombination event above the breakage point suggesting that the deletion occurred underneath this point. The mild Turner stigmata may be explained by the 45,X cell line, and the gonadal dysgenesis probably by a partial deletion of the gonadal dysgenesis region Xq13-q23 (excluding Xq22).
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Turner
/
Cromossomo X
/
Deleção Cromossômica
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Ann Genet
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
México
País de publicação:
Holanda