Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)

Clin Genet. 1992 Jan;41(1):51-3. doi: 10.1111/j.1399-0004.1992.tb03630.x.

Abstract

An 8-year-8-month-old girl with Silver-Russell syndrome (SRS) and a paternally inherited balanced t(17;20)(q25;q13) is described. This observation suggests that an SRS gene(s) maps on chromosome 17 or 20 and that the patient phenotype resulted from either unmasking of heterozygosity or genomic imprinting via paternal disomy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Chromosomes, Human, Pair 17 / ultrastructure*
  • Chromosomes, Human, Pair 20 / ultrastructure*
  • Dwarfism / genetics*
  • Female
  • Fetal Growth Retardation / genetics*
  • Humans
  • Infant, Newborn
  • Phenotype
  • Syndrome
  • Translocation, Genetic*