Inherited partial X chromosome duplication in a mentally retarded male.
Open Access
- 1 June 1982
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 19 (3), 222-224
- https://doi.org/10.1136/jmg.19.3.222
Abstract
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.This publication has 9 references indexed in Scilit:
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