Kirkels V G, Hustinx T W, Scheres J M
Clin Genet. 1980 Dec;18(6):456-61. doi: 10.1111/j.1399-0004.1980.tb01794.x.
This paper describes the unexpected transmission of a translocation (22;22)(p13;q11) from a mother to her phenotypically normal daughter (the proband). Both women had had multiple abortions. No signs of mosaicism with respect to chromosome No. 22 were found in the proband or in her mother. Until now, it has been generally assumed that carriers of a 22/22 translocation will have only abnormal conceptuses. The transmission of this translocation from a balanced carrier to a phenotypically normal daughter was therefore highly unexpected and is not easy to explain. Early postzygotic loss of a chromosome no. 22 from a trisomic zygote, or fertilization of an oocyte carrying the translocation by a sperm nullisomic for chromosome no. 22 could have led to the balanced chromosome pattern of the proband.
本文描述了一种易位（22;22）（p13;q11）从母亲意外遗传给其表型正常的女儿（先证者）的情况。这两名女性均有多次流产史。在先证者及其母亲中均未发现22号染色体的嵌合迹象。到目前为止，人们普遍认为22/22易位的携带者只会有异常的孕体。因此，这种易位从平衡携带者遗传给表型正常的女儿是非常意外的，且难以解释。三体合子中22号染色体在合子后早期丢失，或者携带该易位的卵母细胞被22号染色体缺体的精子受精，可能导致了先证者的染色体平衡模式。
