Voltar
Artigo Acesso aberto Revisado por pares
BIBTEX RIS

Inherited partial X chromosome duplication in a mentally retarded male.

1982; BMJ; Volume: 19; Issue: 3 Linguagem: Inglês

10.1136/jmg.19.3.222

ISSN

1468-6244

Autores

Kristopher Nielsen, F Langkjaer,

Tópico(s)

Prenatal Screening and Diagnostics

Resumo

A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons and the proband were Xg(a-), the mother being Xg(a+). Functional X chromosome disomy may explain clinical abnormalities in reported patients with X duplication and a normal Y chromosome.

Referência(s)