title: Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.
abstract: The clinical presentation of prenatal and postnatal growth deficiency, triangular face, relative macrocephaly, and body asymmetry is frequently diagnosed as Russell-Silver syndrome (RSS). Maternal uniparental disomy (UPD) of chromosome 7 was reported previously in a small subset of individuals with RSS phenotype or primordial growth retardation. The primary purpose of this study was to identify RSS patients with UPD7 and determine whether or not they present phenotypic findings that distinguish them from RSS patients without UPD7. UPD7 testing was performed in 40 patients with unexplained growth retardation, including 21 patients with a diagnosis of RSS. In addition, a subset of patients was screened with markers spanning chromosome 7 to detect potential microdeletions or segmental uniparental disomy. Two of the RSS cases were identified to have maternal UPD7; no cases with deletion or partial UPD were detected. Together with previously published studies, UPD7 was identified in 11/120 (9%) of individuals with classical RSS phenotype. Our patients with UPD7 and those previously published had a classical RSS phenotype and were not clinically distinguishable from other children diagnosed with RSS.
authors.affiliation: Department of Medical Genetics, British Columbia's Children's Hospital.
authors.forename: L E
authors.initials: LE
authors.lastname: Bernard
authors.forename: M S
authors.initials: MS
authors.lastname: Peñaherrera
authors.forename: M I
authors.initials: MI
authors.lastname: Van Allen
authors.forename: M S
authors.initials: MS
authors.lastname: Wang
authors.forename: S L
authors.initials: SL
authors.lastname: Yong
authors.forename: F
authors.initials: F
authors.lastname: Gareis
authors.forename: S
authors.initials: S
authors.lastname: Langlois
authors.forename: W P
authors.initials: WP
authors.lastname: Robinson
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D000328:Adult; D019080:Cafe-au-Lait Spots / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003744:Dental Enamel Hypoplasia / Q000235:genetics; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities; D018392:Genomic Imprinting; D006130:Growth Disorders / Q000145:classification / Q000235:genetics*; D006257:Head / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics