Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

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Abstract
A newborn female infant presented with the classical picture of 18 trisomy syndrome. Her karyotype was 47,XX,+der(18)t(12;18)(q24;q21)mat. The mother was a balanced reciprocal translocation carrier and so was one of the 2 maternal uncles of the proposita, indicating that the translocation was already present in one of the grandparents who were not available for examination. Triplication of the distal part of the long arm of chromosome 18 apparently is not necessary to produce Edwards'' syndrome.
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