Tuncbilek E, Bobrow M, Clarke G, Taysi K
J Med Genet. 1976 Oct;13(5):411-2. doi: 10.1136/jmg.13.5.411.
An extreme variation of the short arm of no. 21 chromosome in the mother of a 21/21 translocation mongol is described. The possible relation between the very long short arm of chromosome no. 21 in the mother and a centric fusion type of translocation mongolism in the offspring is discussed.
本文描述了一例21/21易位型先天愚型患儿母亲21号染色体短臂的一种极端变异。文中讨论了母亲21号染色体非常长的短臂与后代中着丝粒融合型易位型先天愚型之间可能的关系。