Familial partial trisomy: 6q25 leads to 6qter

A suckling baby with microcephaly, craniostenosis, downward slanting palpebral fissues, malformed ears, cerebral, cardiac and intestinal malformation, and partial 6q25 leads to 6qter trisomy is presented. The baby is the second child of a mother with balanced translocation : 46,XX,t(2;6)(q37,q25). The first child with a similar phenotype and cardiac malformation did not undergo cytogenetic investigation and died at 4 months.