Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes

Abstract

A male child with features of the Russel-Silver syndrome, including pre- and postnatal growth delay, triangular facies, bilateral fifth finger clinodactyly, and disproportionate lower extremities, was found to have a ring chromosome 15 in all peripheral leucocytes examined. Review of the reported cases of ring chromosome 15 defines a malformation syndrome with a characteristic facies related to deletion of the 15q26.2{qter region. Russel-Silver and ring 15 syndromes share clinical features such as growth deficiency, triangular facies, digital anomalies, and cafe-au-laitspots. Microcephaly, mental retardation, facial dysmorphology, limb anomalies, and cardiac defects are more striking in ring chromosome 15 patients and are indications for karyotyping when found in conjunction with the Russel-Silver phenotype.