Summary
A family with autosomal reciprocal translocation t(4;13) (q25;q31) 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.
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References
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Nielsen, J., Rasmussen, K. & Lassen, L.B. A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation. Hum Genet 32, 343–348 (1976). https://doi.org/10.1007/BF00295827
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DOI: https://doi.org/10.1007/BF00295827