家族性臂内倒位inv(2)(q31q36)
Familial paracentric inversion inv(2)(q31q36).
作者信息
Schmid M, Hofmann R, Köhler J, Jannek U
出版信息
Hum Genet. 1985;71(3):270-2. doi: 10.1007/BF00284590.
PMID:4065899
Abstract
A paracentric inversion of chromosome 2 is described for the first time. The breakpoints were localized in the bands q31 and q36. The paracentric inversion was initially identified in a female with repeated abortions and thereafter detected in eight other family members over three generations. The meiotic consequences and the risk for liveborn unbalanced chromosomal recombinants is discussed.
摘要
首次描述了2号染色体的臂内倒位。断点定位于q31和q36带。该臂内倒位最初在一名反复流产的女性中被发现，随后在三代中的另外八名家庭成员中检测到。讨论了减数分裂的后果以及活产染色体不平衡重组体的风险。
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