Niikawa N, Merotto E, Kajii T
Hum Genet. 1977 Dec 29;40(1):73-8. doi: 10.1007/BF00280832.
A total of 33 spontaneous abortuses with various acrocentric trisomies were studied for the origin of the extra chromosomes using Q- and R-band polymorphisms as markers. Eleven trisomic abortuses were informative: nine trisomic abortuses (one with trisomy 13, three with trisomy 21, and five with trisomy 22 including one with a 46,XX/47,XX,+22 mosaicism) originated at maternal first meiosis; a 21-trisomic abortus resulted from an error at maternal second meiosis (or first mitosis); and a 13-trisomic abortus was of maternal first or second meiotic origin. The abortus with mosaic trisomy 22 started as a 22-trisomic zygote resulting from an error at maternal first meiosis, followed by a mitotic (in vivo or in vitro) loss of the paternally derived chromosome 22.
利用Q带和R带多态性作为标记,对总共33例具有各种近端着丝粒三体的自然流产胎儿进行了额外染色体起源的研究。11例三体性流产胎儿提供了信息:9例三体性流产胎儿(1例13三体、3例21三体和5例22三体,其中1例为46,XX/47,XX,+22嵌合体)起源于母体第一次减数分裂;1例21三体流产胎儿是由母体第二次减数分裂(或第一次有丝分裂)出错导致的;1例13三体流产胎儿起源于母体第一次或第二次减数分裂。具有22三体嵌合体的流产胎儿最初是一个22三体合子,由母体第一次减数分裂出错产生,随后父源22号染色体在有丝分裂(体内或体外)过程中丢失。