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Semin Thromb Hemost 2011; 37(6): 707-712
DOI: 10.1055/s-0031-1291381
© Thieme Medical Publishers

Thrombocytopenia-Absent Radius Syndrome

Helga V. Toriello1 , 2
  • 1Department of Clinical Genetics, Spectrum Health Hospitals, Grand Rapids, Michigan
  • 2Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan
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Publikationsdatum:
18. November 2011 (online)

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ABSTRACT

Thrombocytopenia-absent radius (TAR) syndrome is a relatively uncommon condition characterized by absent radii with the presence of thumbs and congenital or early-onset thrombocytopenia that tends to resolve in childhood. The precise cause of this condition is unknown, although recently a microdeletion of chromosome 1q21.1 has been found in all investigated individuals. However, this microdeletion alone is not sufficient to cause TAR syndrome, and another, uncharacterized genetic alteration is thought to be involved in the pathogenesis.

KEYWORDS

Skeletal anomalies - microdeletion 1q21.1 - cow's milk allergy - megakaryocytic progenitors - presence of thumbs - radial anomalies

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Helga V TorielloPh.D. 

Director of Clinical Genetics, Spectrum Health Hospitals, 25 Michigan Street, Suite 2000; Professor, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine

15 Michigan Street, Grand Rapids, Michigan 49503

eMail: Toriello@msu.edu