Bajnóczky K, Méhes K
Department of Pediatrics, County Hospital, Györ, Hungary.
Hum Genet. 1988 Mar;78(3):286-8. doi: 10.1007/BF00291679.
We have studied the centromere separation sequence in lymphocyte mitoses of the parents of four infants with trisomy 18, five patients with trisomy 21, and five children with normal karyotype. "Late separation" of chromosome 18 was found in both parents of a neonate with trisomy 18, "early separation" of chromosome 21 in three mothers and in one father of four children with trisomy 21. No "out-of-phase" separation occurred in the mitoses of the parents of normal children. The findings provide further evidence for the correlation between alteration of the parental centromere separation sequence and aneuploidy of the offspring.
我们研究了4名18三体综合征婴儿的父母、5名21三体综合征患者以及5名核型正常儿童的淋巴细胞有丝分裂中的着丝粒分离序列。在一名18三体综合征新生儿的父母中均发现18号染色体“后期分离”,在4名21三体综合征儿童的3名母亲和1名父亲中发现21号染色体“早期分离”。正常儿童父母的有丝分裂中未出现“不同步”分离。这些发现为亲代着丝粒分离序列改变与子代非整倍体之间的相关性提供了进一步证据。