Maternal uniparental disomy 7 in Silver-Russell syndrome

J Med Genet. 1997 Jan;34(1):6-9. doi: 10.1136/jmg.34.1.6.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Anthropometry
  • Blotting, Southern
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 7*
  • DNA / analysis
  • DNA / isolation & purification
  • Female
  • Fetal Growth Retardation / genetics
  • Genotype
  • Humans
  • Infant
  • Male
  • Microsatellite Repeats / genetics*
  • Minisatellite Repeats / genetics*
  • Paternity
  • Pedigree
  • Syndrome


  • DNA