Institute of Medical Genetics, Campus Virchow-Klinikum, Charité, Augustenburger Platz 1, Berlin, Germany.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):77-100. doi: 10.1016/j.beem.2010.09.004.
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.
通常情况下，一个人从父母一方继承一对染色体中的一条，从另一方继承另一条染色体。单亲二倍体（UPD）描述了一对染色体的两个同源染色体都来自同一个亲本的遗传。UPD 综合征的生物学基础是基因组印迹的紊乱。UPD 的后果取决于涉及的特定染色体/片段及其亲本来源。表型范围从无症状到常染色体隐性疾病的表现，再到综合征性印迹障碍的表现。虽然父源 UPD(7) 临床上无症状，但母源 UPD(7) 是 Silver-Russell 综合征的几个原因之一。父源 UPD(14)（“Kagami 综合征”）的表现是一种伴有智力障碍和有限生存的胸壁发育不良综合征。母源 UPD(14)（“Temple”综合征）的发现与众所周知的母源 UPD(15)（Prader-Willi 综合征）具有年龄依赖性重叠，其特征是最初生长不良，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，最后概述需要进一步研究的领域。
