Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype.

ABSTRACT

A case of a 37-year-old male patient with r(15) is reported. At birth he was small and light for dates. His main features are short stature, head circumference in the lower normal range, mid-facial hypoplasia, radial defects, and mental retardation. Evaluation of the phenotype led us to conclude that a wide spectrum of malformations is possible. There is apparently no strong correlation between karyotype and phenotype.