1981 Volume 57 Issue 3 Pages 89-94
Cytogenetic analysis of a one-month-old Japanese boy with cretinism-like features was carried out. His chromosome constitution was determined as 46, XY, -18, +der (18), t(3;18) (p24; q22) mat. A family study revealed that balanced translocation carriers were his mother and maternal grandmother. The propositus had characteristic features of 3p trisomy such as square facies, temporal indentation, strabimus, depressed nasal bridge, prominent middle upper lip, carp mouth, micro- and retrognathia, short neck and hypoplastic penis.