Uniparental disomies 7 and 14
Uniparental disomies 7 and 14
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DOI：
10.1016/j.beem.2010.09.004
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发表时间：
2011-02-01
影响因子：
7.4
通讯作者：
Heller, Raoul
中科院分区：
文献类型：
--
作者：
Hoffmann, Katrin;Heller, Raoul
正常情况下，一个人从父母一方继承每对染色体中的一条，从另一个父母继承第二条染色体。单亲二体性（UPD）描述了来自同一亲本的染色体对的两个同源物的遗传。UPD综合征的生物学基础是基因组印记紊乱。UPD的后果取决于所涉及的特定染色体/片段及其亲本来源。表型的范围从不明显的常染色体隐性遗传疾病的暴露到表现为综合征性印迹障碍。虽然父亲的UPD（7）在临床上不明显，但母亲的UPD（7）是Silver-Russell综合征的几个原因之一。父源性UPD（Kagami综合征）是一种胸廓发育不良综合征，伴有智力低下和生存期受限。在母体UPD（14）（“Temple”）综合征中的发现显示与众所周知的母体UPD（15）（Prader-Willi）综合征具有年龄依赖性重叠，并且主要表现为最初发育不良，随后是肥胖、学习困难和性早熟。将解释解决UPD（7）和UPD（14）综合征遗传异质性的诊断策略。将讨论UPD（7）和UPD（14）患者的管理问题，最后将概述需要进一步研究的领域。(C)2010爱思唯尔有限公司保留所有权利。
Normally, one inherits one chromosome of each pair from one parent and the second chromosome from the other parent. Uniparental disomy (UPD) describes the inheritance of both homologues of a chromosome pair from the same parent. The biological basis of UPD syndromes is disturbed genomic imprinting. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unmasking of an autosomal-recessive disease to presentation as a syndromic imprinting disorder. Whilst paternal UPD(7) is clinically unapparent, maternal UPD(7) is one of several causes of Silver-Russell syndrome. Presentation of paternal UPD(14) ("Kagami syndrome") is a thoracic dysplasia syndrome with mental retardation and limited survival. Findings in maternal UPD(14) ("Temple") syndrome show an age-dependent overlap with the well-known maternal UPD(15) (Prader-Willi) syndrome and are dominated by initial failure to thrive followed by obesity, learning difficulties and precocious puberty. Diagnostic strategies to tackle the genetic heterogeneity of UPD(7) and UPD(14) syndromes will be explained. Management issues in UPD(7) and UPD(14) patients will be discussed, and finally areas requiring further research will be outlined. (C) 2010 Elsevier Ltd. All rights reserved.