A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation.
作者信息
Nielsen J, Rasmussen K, Lassen L B, Christansen F
出版信息
Hum Genet. 1976 Jun 29;32(3):343-8. doi: 10.1007/BF00295827.
PMID:939554
Abstract
A family with autosomal reciprocal translocation t(4;13) (q25;a31) with a sibship comprising 2 children with unbalanced karyotypes, der(13) partial trisomy 4q, 1 child with the balanced translocation, and 2 abortions were studied. The segregation risk of unbalanced derivation in reciprocal translocations is discussed. The clinical picture of the 2 children with partial trisomy 4q is compared with similar cases.
摘要
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