Slater H, Shaw J H, Dawson G, Bankier A, Forrest S M
Murdoch Institute, Royal Childrens' Hospital, Parkville, Melbourne, Victoria 3052, Australia.
J Med Genet. 1994 Aug;31(8):644-6. doi: 10.1136/jmg.31.8.644.
A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t(13;13)(p11.2;p11.2) from his mother who is a carrier of this translocation. The mother was ascertained through a history of recurrent abortion and is phenotypically normal. The translocation in both subjects was studied by cytogenetic and DNA analysis and appears to be a true dicentric isochromosome. These findings show that maternal uniparental disomy of chromosome 13 has had no pathological consequences and suggests that there is no imprinting of genes on maternally derived chromosome 13.
本文描述了一例13号染色体单亲二体的病例。患者为一名表型正常的男性，他从母亲那里继承了一条t(13;13)(p11.2;p11.2)，其母亲是这种易位的携带者。母亲因反复流产史而被确诊，表型正常。通过细胞遗传学和DNA分析对两人的易位情况进行了研究，结果显示这是一条真正的双着丝粒等臂染色体。这些发现表明，13号染色体单亲二体并未产生病理后果，这提示母源13号染色体上不存在基因印记现象。
