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X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

Abstract:

We have examined seven pedigrees that include individuals with a recently described X-linked form of severe mental retardation associated with alpha-thalassemia (ATR-X syndrome). Using hematologic and molecular approaches, we have shown that intellectually normal female carriers of this syndrome may be identified by the presence of rare cells containing HbH inclusions in their peripheral blood and by an extremely skewed pattern of X inactivation seen in cells from a variety of tissues. Linkag...

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Publication status:
Published

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Authors


Gibbons, RJ More by this author
Suthers, GK More by this author
Wilkie, AO More by this author
Buckle, VJ More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine, Biomedical Research Centre
Journal:
American journal of human genetics
Volume:
51
Issue:
5
Pages:
1136-1149
Publication date:
1992-11-05
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:6c59ecc5-dca2-4f89-bd6e-76c4df99aff9
Source identifiers:
253028
Local pid:
pubs:253028

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