Silver-Russell syndrome and exclusion of uniparental disomy

Clin Genet. 1996 Dec;50(6):494-7. doi: 10.1111/j.1399-0004.1996.tb02720.x.


Recently, maternal uniparental disomy for the entire chromosome 7 was described in three of 25 Silver-Russell syndrome sporadic cases, yet the etiology of the remaining cases is unclear. Two cases with Silver-Russell syndrome and a balanced translocation involving the 17q25 had been reported. We looked for evidence of genomic imprinting due to uniparental disomy 17 in seven patients with sporadic Silver-Russell syndrome and their parents. Additionally, chromosomes 7, 8, 11 and 20 were studied. Uniparental disomy was ruled out for all these chromosomes in six of seven families; one family was informative only for chromosome 17. Not-withstanding our negative results, it is still possible that uniparental disomy plays a part in this syndrome. A mutation in a Mendelian gene in 17q25 could also account for the Silver-Russell syndrome etiology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities
  • Chromosomes, Human, Pair 17 / genetics*
  • Face / abnormalities
  • Female
  • Fetal Growth Retardation / genetics*
  • Growth Disorders / genetics*
  • Humans
  • Male
  • Nondisjunction, Genetic*
  • Phenotype
  • Syndrome