Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.

Abstract

A male child with features of the Russell-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. Russell-Silver and ring 15 syndromes share clinical features such as growth deficiency, triangular facies, digital anomalies, and café-au-lait spots. 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 Russell-Silver phenotype.

• Authors: G N Wilson, S E Sauder, M Bush, I Z Beitins
• Journal: Journal of medical genetics (J Med Genet) Vol. 22 Issue 3 Pg. 233-6 (Jun 1985) ISSN: 0022-2593 [Print] England
• PMID: 4040173 (Publication Type: Case Reports, Journal Article)

Topics

• Chromosome Aberrations
• Chromosomes, Human, 13-15
• Dwarfism (genetics)
• Face (abnormalities)
• Female
• Fetal Growth Retardation (genetics)
• Humans
• Male
• Phenotype
• Pregnancy
• Ring Chromosomes
• Syndrome