Paternal UPD14 is responsible for a distinctive malformation complex
Paternal UPD14 is responsible for a distinctive malformation complex
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DOI：
10.1002/ajmg.10404
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发表时间：
2002-07-01
期刊：
影响因子：
--
通讯作者：
Nishimura, G
中科院分区：
文献类型：
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作者：
Kurosawa, K;Sasaki, H;Nishimura, G
我们报告了一个男孩和两个女孩的父亲单亲二体性染色体14 q（患者14）。一个女孩有罗伯逊易位，而两个正常的核型。根据这些患者的临床表现和4例14号染色体易位的病例，认为14号染色体易位是一种特殊的综合征。特征包括腹部肌肉缺陷、骨骼异常和特征性面容。patrio 14的表型与先前报道的小鼠模型的表型一致，即，染色体12具有与人类染色体14正交的区域的父本单亲二体性的小鼠胚胎。人类染色体14 q32上新识别的印迹基因DLK 1和GTL 2的剂量效应可能在独特畸形复合体的致病机制中起重要作用。(C)2002 Wiley-Liss，Inc.
We present a boy and two girls with paternal uniparental disomy of chromosome 14q (patUPD14). One girl had a Robertsonian translocation, whereas two a normal karyotype. Based on the manifestations of these patients and four previously reported patients who all had translocated chromosome 14, The patUPD14 was thought to constitute a distinctive syndrome. The hallmarks included abdominal muscular defects, skeletal anomalies, and characteristic facies. The phenotype of patUPD14 was consistent with that of a previously reported mouse model, i.e., mouse embryos with paternal uniparental disomy of chromosome 12 that has a region orthologous to that of human chromosome 14. Dose effects of newly recognized imprinted genes on human chromosome 14q32, DLK1 and GTL2, could play an important role in the pathogenic mechanism of the distinctive malformation complex. (C) 2002 Wiley-Liss, Inc.