title: Maternal uniparental disomy 7 in Silver-Russell syndrome.
abstract: Silver-Russell syndrome (SRS) is characterised by intrauterine and postnatal growth failure accompanied by a variable number of dysmorphic features. It is usually sporadic although a few familial cases have been described. In a prospective study of 33 patients with sporadic SRS, we have studied the parent of origin of chromosome 7 using variable number tandem repeat (VNTR) or microsatellite repeat markers and have identified two patients with maternal uniparental disomy of chromosome 7 (mUPD7). In one family, inconsistent inheritance of paternal alleles of markers on chromosomes other than 7 led to their exclusion from further study. The probands were clinically mild and symmetrical, but showed no gross clinical differences from the 30 patients with chromosome 7 derived from both parents.
authors.affiliation: Institute of Child Health, University of London, UK.
authors.forename: M A
authors.initials: MA
authors.lastname: Preece
authors.forename: S M
authors.initials: SM
authors.lastname: Price
authors.forename: V
authors.initials: V
authors.lastname: Davies
authors.forename: L
authors.initials: L
authors.lastname: Clough
authors.forename: P
authors.initials: P
authors.lastname: Stanier
authors.forename: R C
authors.initials: RC
authors.lastname: Trembath
authors.forename: G E
authors.initials: GE
authors.lastname: Moore
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D015139:Blotting, Southern; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000032:analysis / Q000302:isolation & purification; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D018598:Minisatellite Repeats / Q000235:genetics*; D010334:Paternity; D010375:Pedigree; D013577:Syndrome
chemical_list: D004247:DNA