Ishikiriyama S, Niikawa N
Hum Genet. 1984;68(3):266-8. doi: 10.1007/BF00418400.
Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome had originated in nondisjunction at the maternal first meiotic division in two patients, at the maternal second meiosis in other two, and at the paternal first meiosis in the remaining one. Summarizing the results of the present study, together with those of the previous studies on a liveborn and abortuses with trisomy 13, nondisjunction at the maternal and the paternal meiosis occurred in this trisomy in the ratio of 14:3. This ratio is not statistically different from that inferred from the previous studies for Down syndrome. These findings suggest that there may be a fundamental mechanism common to the occurrence of nondisjunction in the acrocentric trisomies.
对五名患有帕陶氏综合征的活产婴儿进行了研究，以确定额外染色体的不分离起源。利用QFQ和RFA异态性作为标记，确定了父母的13号染色体向孩子的传递模式，并在所有患者中确定了起源。在两名患者中，额外染色体起源于母本第一次减数分裂时的不分离，另外两名患者起源于母本第二次减数分裂时的不分离，其余一名患者起源于父本第一次减数分裂时的不分离。总结本研究结果，以及之前关于13三体活产儿和流产儿的研究结果，母本和父本减数分裂时的不分离在这种三体中发生的比例为14:3。这个比例与之前对唐氏综合征研究推断的比例没有统计学差异。这些发现表明，近端着丝粒三体中不分离的发生可能存在一个共同的基本机制。
