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Del Xq23 in a mosaic Turner female: molecular and cytogenetic studies.
Mesa-Cornejo, V M; García-Cruz, D; Monroy-Jaramillo, N; Vásquez, A I; Dávalos, N O; Galaviz, C; Kofman, S.
Afiliação
  • Mesa-Cornejo VM; División de Genética, Sierra Mojada 800 CP 44340, Ap postal 1-3838, Guadalajara, Jalisco, Mexico.
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
Buscar no Google
Adicionar na Minha BVS
Imprimir
XML
PubMed Links

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