Summary
Two sisters are described, each with a specific retardation syndrome due to a balanced reciprocal translocation 9p;21q in the mother. As a result of different 3:1 segregations, one of them has a trisomy 9p with all typical features; the other one reveals a typical Down's syndrome having an unusual translocation karyotype.
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Habedank, M., Faust, J. Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11). Hum Genet 42, 251–256 (1978). https://doi.org/10.1007/BF00291304
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DOI: https://doi.org/10.1007/BF00291304