对伴有家族性染色体重排的唐氏综合征患者非整倍体起源进行分析，未发现父源染色体间效应的证据。
No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements.
作者信息
Schinzel A A, Adelsberger P A, Binkert F, Basaran S, Antonarakis S E
机构信息
Institute of Medical Genetics, University of Zurich, Switzerland.
出版信息
Am J Hum Genet. 1992 Feb;50(2):288-93.
The parental origin of the extra chromosome 21 was determined with DNA polymorphisms in seven families in whom the proband and one of the parents carried an additional chromosome rearrangement (balanced translocation or pericentric inversion) not involving chromosome 21. The balanced rearrangement was inherited from the mother in two families and from the father in five families, whereas the additional chromosome 21 was derived from the mother in all seven families. These findings are not in agreement with the hypothesis of a paternal interchromosomal effect. The latter would imply that a balanced rearrangement in the father would favor nondisjunction during meiosis in the germ cells.
在7个家系中，先证者及其父母之一携带不涉及21号染色体的额外染色体重排（平衡易位或臂间倒位），通过DNA多态性确定了额外21号染色体的亲本来源。在2个家系中，平衡重排是从母亲遗传而来，在5个家系中是从父亲遗传而来，而在所有7个家系中，额外的21号染色体均来自母亲。这些发现与父本染色体间效应的假说不一致。后者意味着父亲的平衡重排会有利于生殖细胞减数分裂期间的不分离。
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