由母亲相互易位的3:1减数分裂分离导致的8q24.2至qter和15q14至pter重复。
Duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation.
作者信息
Kausch K, Haaf T, Schmid M
机构信息
Department of Human Genetics, University of Würzburg, West Germany.
出版信息
Am J Med Genet. 1988 Dec;31(4):981-5. doi: 10.1002/ajmg.1320310433.
PMID:3239587
Abstract
We report on a 16-year-old female with duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 segregation of a maternal balanced reciprocal translocation. This mode of unbalanced segregation could be predicted from Pachytene-diagram drawing. Most of her clinical manifestations can be related to the proximal 15q trisomy. To our knowledge there is only one previous report of a similar chromosome constitution.
摘要
我们报告了一名16岁女性，其8q24.2----qter和15q14----pter发生重复，这是由母亲的平衡相互易位的3:1分离导致的。这种不平衡分离模式可以通过粗线期图绘制来预测。她的大多数临床表现可能与近端15q三体有关。据我们所知，之前仅有一篇关于类似染色体构成的报道。
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