RING CHROMOSOME-5 ASSOCIATED WITH SEVERE GROWTH-RETARDATION AS THE SOLE MAJOR PHYSICAL ABNORMALITY

We report on a case of ring chromosome 5 in a 36-month-old girl with s evere growth retardation, clinodactyly, mild psychological abnormaliti es, and normal facial appearance. Endocrine tests showed partial growt h hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chrom osome 5 as consequence of ring formation. In 12% of cells examined, th e ring was either absent or present in multiple copies. Only 3 previou s cases of ring chromosome 5 have been reported in association with sh ort stature of prenatal onset and minor anomalies, without mental reta rdation.