James R S, Temple I K, Patch C, Thompson E M, Hassold T, Jacobs P A
Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.
Eur J Hum Genet. 1994;2(2):83-95. doi: 10.1159/000472348.
A systematic search was made for uniparental disomy in carriers of apparently balanced chromosome translocations who also had unexplained abnormalities of mental or physical development. Of 65 families studied, biparental origin of both translocated chromosomes was demonstrated in 64, and only 1 case of maternal uniparental disomy of chromosome 14 was detected in the carrier of a Robertsonian t(13q14q). We conclude that uniparental disomy is a rare occurrence in this population.
对那些患有明显平衡染色体易位且伴有不明原因智力或身体发育异常的携带者进行了单基因二体性的系统搜索。在研究的65个家庭中，64个家庭的两条易位染色体均显示为双亲来源，仅在一名罗伯逊易位t(13q14q)携带者中检测到1例14号染色体的母源单基因二体性。我们得出结论，单基因二体性在该人群中是一种罕见现象。
