Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Med Genet. 1999 Mar 19;83(3):178-82.

Dyskeratosis congenita: an autosomal recessive variant.

Author information

  • 1Division of Medical Genetics, Montreal Children's Hospital and McGill University, Quebec, Canada.

Abstract

We describe a woman with dyskeratosis congenita (DKC), microcephaly, and a purple discoloration of the tongue. The latter findings are not commonly described in males with DKC, have been reported in another female patient with this condition, and may represent the phenotype of an autosomal recessive entity of DKC. Results of X chromosome inactivation studies did not support X-linked DKC in our family. The additional findings of an affected brother and parental consanguinity support the hypothesis of autosomal recessive inheritance.

PMID:
10096592
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for John Wiley & Sons, Inc.
    Loading ...
    Write to the Help Desk