Trisomy 6p22 leads to 6pter due to familial t(6;13)(p22;q34 or 33) translocation

A newborn with a 46,XY,der(13),t(6;13)(p22;q34 or 33)pat karyotype, trisomic for the 6p22 leads to 6pter segment and, perhaps, monosomic for the 13q telomere, is reported. The balanced translocation is familial and was also encountered in the sister and paternal grandmother. The infant's phenotype was similar to that described in seven previously reported cases of partial trisomy 6p and further supports a partial trisomy 6p syndrome as proposed by Breuning et al.