Donnai D
Regional Genetic Service, St. Mary's Hospital, Manchester, United Kingdom.
Am J Med Genet. 1993 Jul 1;46(6):681-2. doi: 10.1002/ajmg.1320460615.
Robertsonian translocations, occurring with a frequency of about 1 in 10,000 livebirths, may be an important cause of uniparental disomy as demonstrated for 13/15, 13/14, 14/14, and 22/22 translocations. Dysmorphogenesis and/or mental retardation provide clinical clues for uniparental disomy in apparently balanced offspring of translocation carriers. Research strategies for assessing frequency and implications of uniparental disomy in translocation carriers include a genetic register approach, study of abortuses from balanced translocation carriers, and parent-of-origin studies on de novo homologous Robertsonian translocations.
罗伯逊易位的发生率约为每10000例活产中有1例，它可能是单亲二体的一个重要原因，如13/15、13/14、14/14和22/22易位所示。畸形发生和/或智力迟钝为易位携带者明显表型正常的后代中的单亲二体提供了临床线索。评估易位携带者中单亲二体的频率及其影响的研究策略包括遗传登记法、对平衡易位携带者的流产胎儿进行研究，以及对新发同源罗伯逊易位进行亲代来源研究。
