"Partial trisomy 22 and 11" due to a paternal 11;22 translocation associated with Hirschsprung disease

The 11;22 translocation seems to be the most frequent, non-Robertsonian, translocation in man. Approximately 50 cases with an unbalanced karyotype 47,XX (or XY),+der(22), t(11q;22q), due to a 3:1 meiotic disjunction in the parental translocation carrier, have been reported in the literature. We present an additional patient with that chromosome aberration, whose father was shown to be the translocation carrier. He presented with many of the more or less typical signs of the syndrome, but had an extraordinary additional finding, namely Hirschsprung disease. Although anal stenosis is a rather frequent finding in the syndrome, Hirschsprung disease has never been described in the literature. Furthermore the most important genetic and cytogenetic data on that chromosome aberration are given, including implications for genetic counselling.