Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation
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DOI：
10.1038/82511
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发表时间：
2000-12-01
期刊：
影响因子：
30.8
通讯作者：
Nguyen, LT
中科院分区：
文献类型：
--
作者：
Thompson, AA;Nguyen, LT
图 1 骨骼缺陷和家系。 a，受影响儿童的前臂X光片显示桡骨和尺骨弯曲和近端融合。手腕和肘部的关节看起来正常。没有进行完整的骨骼调查。 b、家族血统。患有桡尺骨骨联结（阴影符号）的两个不相关和非近亲家庭的所有成员在 HOXA11 中都有相同的突变。四分之三患有骨骼缺陷的儿童也患有无巨核细胞血小板减少症，由较小的叠加填充符号表示。 A家庭的母亲和一名孩子均正常。每个家族的扩展谱系显示没有其他骨骼缺陷或骨髓衰竭的病例。乙
Fig. 1 Skeletal defect and pedigrees. a, Forearm radiograph of an affected child shows bowing and proximal fusion of the radius and ulna. Articulations at the wrist and elbow appear normal. A full skeletal survey was not performed. b, Family pedigrees. All members of two unrelated and nonconsanguinous families with radio-ulnar synostosis (shaded symbols) have an identical mutation in HOXA11. Three of four children with skeletal defects also had amegakaryocytic thrombocytopenia, denoted by the smaller, superimposed filled symbol. Mothers and one child in family A were normal. Extended pedigrees in each family revealed no other cases of skeletal defects or marrow failure. a b