Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14
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DOI：
10.1002/ajmg.a.31896
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发表时间：
2007-09-15
影响因子：
2
通讯作者：
Edwards, Matthew
中科院分区：
文献类型：
--
作者：
Mattes, Joerg;Whitehead, Bruce;Edwards, Matthew
单亲二体（UPD）描述了来自单亲的两条同源染色体的遗传。与UPD和染色体印迹相关而不是与突变相关的疾病表型包括Beckwith-Wiedemann综合征（父亲UPD11p）， Angleman综合征（父亲UPD15）， Prader-Willi综合征（母亲UPD15）。Prader-Wili综合征（母体UPD15）和一过性产前糖尿病（母体UPD6）。在这里，我们报告了第一例14号染色体父本单代同工二体与一个额外标记染色体14的镶嵌现象。患者表现为胸小，肋骨呈衣架状，脊柱后凸，上、下颌骨发育不全，鼻梁宽，鼻孔前倾，腕关节挛缩，双侧月牙偏差，直肌离散，肌张力过低。在父系UPD14患者中，颏下的垂直皮肤皱褶和肱骨骨骺点点是以前未描述的特征。该病例说明，与同工染色体的发现一样，多余的标记染色体可能是UPD14存在的重要线索。(c) 2007 Wiley-Liss, Inc。
Uniparental disomy (UPD) describes the inheritance of two homologous chromosomes from a single parent. Disease phenotypes associated with UPD and chromosomal imprinting rather than with mutations, include Beckwith-Wiedemann syndrome (paternal UPD11p), Angleman syndrome (paternal UPD15), Prader-Willi syndrome (maternal UPD 15). Prader-Wili syndrome (maternal UPD15) and transient nonatal diabetes (paternal UPD6). here we report on the first case of patrnal uniparental isodisomy of chromosome 14 with a mosaicism for a supernumerary marker chromsome 14. The patient demonsrtrated a small thorax with a coat hanger shape of the ribs kyphoscoliosis, hypoplasia of the maxilla and mandible, a broad nasal bridge with anteverted nares contractures of the wrists with unlar deviation bilaternally, diastasis recti, and makred muscle hypotonia. Vertical skin creases under the chin and stippled epiphyses of the humeri were features not previously described in patients with paternal UPD14. This case illustrates that as with the finding of an isochromosome, a supernumerary marker chromosome can be an imporant clue to the presence of UPD14. (c) 2007 Wiley-Liss, Inc.