A 13-year-old slightly mentally retarded female is reported with diffuse calcification of the cartilage, brachytelephalangy, mixed hearing loss and peripheral pulmonary stenosis. The present observation confirms the existence of the Keutel syndrome as a distinct syndrome, with probable autosomal recessive inheritance.

This paper describes a case of partial trisomy of almost the entire long arm of chromosome 18 in a newborn with classic trisomy-18 phenotype, resulting from a de novo unbalanced 181/21p translocation: karyotype: 46,XX,-21,t(18;21)(18qter leads to 18q11 ::21p12 leads to 21qter). A review of the other reported cases of partial trisomy 18 suggests that a critical segment in chromosome 18, corresponding to bands q11-q12, might be responsible for most of the signs of trisomy 18, including failure to thrive and early death.