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Inherited partial X chromosome duplication in a mentally retarded male.

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...

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Bibliografische gegevens
Hoofdauteurs: Nielsen, K B, Langkjaer, F
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1982
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048871/
https://ncbi.nlm.nih.gov/pubmed/7108918
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