Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

It has been postulated that the deletion of band 13q32 may be associated wi th digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chr omosomes 5p15 and 13q22. The offspring have a specific and well-defined phe notype depending on which is the unbalanced chromosome in the karyotype. Wh en a partial trisomy of 13q22 --> qter is present, the fetuses have polydac tyly in the four limbs, and when the fetus is carrying a partial monosomy o f this portion, an oligodactyly in all members can be observed. Copyright ( C) 1999 John Wiley & Sons, Ltd.