具有三个相互易位的新生易位杂合子。
De novo translocation heterozygote with three reciprocal translocations.
作者信息
Watt J L, Couzin D A
出版信息
J Med Genet. 1983 Oct;20(5):385-8. doi: 10.1136/jmg.20.5.385.
Abstract
An extremely rare case of a child with three balanced reciprocal translocations involving six different autosomes is described. These abnormalities have apparently arisen de novo and seem to have only relatively minor phenotypic effects. The meiotic possibilities are discussed and cytogenetic markers suggest that the damage may have occurred in a paternal gamete.
摘要
本文描述了一例极为罕见的儿童病例，该儿童有涉及六条不同常染色体的三次平衡相互易位。这些异常显然是新发的，似乎仅产生相对较小的表型效应。文中讨论了减数分裂的可能性，细胞遗传学标记表明损伤可能发生在父方配子中。
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