Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D003394:Craniofacial Dysostosis / Q000235:genetics; D003878:Dermatoglyphics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D011884:Radius / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities