两姐妹因父亲的t(9;10)(q34;q24)易位出现两例新的10q21至10qter三体病例
[Two new cases of trisomy 10q21 to 10qter in two sisters due to paternal translocation t(9;10) (q34;q24)].
作者信息
Fraisse J, Lauras B, La Selve A, Freycon F
出版信息
Ann Genet. 1977 Jun;20(2):128-31.
PMID:302687
Abstract
Two sisters with multiple congenital malformations were shown to be trisomic for 10q24 to 10qter as a consequence of malsegregation of the balanced paternal translocation t(9;10) (q34;q24). Comparison of their phenotype with that of other patients reported in the literature confirms the individuality of the partial 10q trisomy syndrome.
摘要
两名患有多种先天性畸形的姐妹被证明由于父亲平衡易位t(9;10)(q34;q24)的错误分离而导致10q24至10qter三体。将她们的表型与文献中报道的其他患者的表型进行比较，证实了部分10q三体综合征的独特性。
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