Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype
Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype
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DOI：
10.1002/ajmg.a.20618
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发表时间：
2004-06-01
影响因子：
2
通讯作者：
McPherson, E
中科院分区：
文献类型：
--
作者：
Chu, C;Schwartz, S;McPherson, E
14号染色体显示具有不同表型的印迹与母亲和父亲的单亲二体（UPD）。虽然只有11例父本单亲二体14 （patUPD14）已被报道，一个明显的临床可识别的综合征已经出现。主要特征为羊水过多，胸小，四肢轻度短，腹壁缺损，特征性面部，睑裂短，鼻梁宽平，中音突出，耳小。x线片上，胸部呈钟形，肋骨明显，前呈尾椎弓形，后呈颅骨弓形。几名受影响的婴儿死于呼吸衰竭。幸存者身材矮小，智力迟钝。最初的病例都是由于14号染色体易位而被确认的。随后，报道了几例具有相似表型和正常染色体的患者，包括两例混合异位和异位二体以及一例片段性UPD14。我们的患者是第一个在没有易位的情况下具有纯父亲14号同位体的患者。我们提供了额外的临床信息，回顾了文献，并讨论了可能解释我们染色体正常患者的父亲14号同型体的机制。正常核型的父亲UPD14可能比以前怀疑的更常见，可能被忽视，除非认识到临床表型促使对UPD的调查。(C) 2003 Wiley-Liss, Inc。
Chromosome 14 demonstrates imprinting with differing phenotypes for both maternal and paternal uniparental disomy (UPD). Although only 11 cases of paternal uniparental disomy 14 (patUPD14) have been reported, a distinct clinically recognizable syndrome has emerged. The major features are polyhydramnios, small thorax, mildly short limbs, abdominal wall defects, and characteristic face with short palpebral fissures, broad flat nasal bridge, prominent philtrum, and small ears. Radiographically, the chest is bell-shaped and the ribs are distinctive with caudal bowing anteriorly and cranial bowing posteriorly. Several affected infants have died from respiratory failure. T he survivors have short stature and mental retardation. The initial cases were all recognized because of translocations involving chromosome 14. Subsequently, several patients with a similar phenotype and normal chromosomes have been reported, including two with mixed iso- and heterodisomy as well as one with segmental UPD14. Our patient is the first with pure paternal isodisomy 14 in the absence of a translocation. We present additional clinical information, review the literature, and discuss mechanisms that may explain paternal isodisomy 14 in our chromosomally normal patient. Paternal UPD14 with normal karyotype may be more common than previously suspected and may be overlooked unless recognition of the clinical phenotype prompts investigation for UPD. (C) 2003 Wiley-Liss, Inc.