Thrombocytopenia-Absent Radius Syndrome

被引：44

作者：

Toriello, Helga V. ^{[1
,2
]}

机构：

[1] Spectrum Hlth Hosp, Dept Clin Genet, Grand Rapids, MI 49503 USA

[2] Michigan State Univ, Coll Human Med, Dept Pediat & Human Dev, Grand Rapids, MI 49503 USA

来源：

SEMINARS IN THROMBOSIS AND HEMOSTASIS | 2011年 / 37卷 / 06期

关键词：

Skeletal anomalies; microdeletion; 1q21.1; cow's milk allergy; megakaryocytic progenitors; presence of thumbs; radial anomalies; HOLT-ORAM SYNDROME; TAR SYNDROME; CONGENITAL THROMBOCYTOPENIA; ROBERTS-SYNDROME; CEREBELLAR VERMIS; HORSESHOE KIDNEY; CORPUS-CALLOSUM; FANCONI-ANEMIA; LEUKEMIA; THROMBOPOIETIN;

D O I：

10.1055/s-0031-1291381

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：707 / 712

页数：6