Full trisomy 7 and Potter syndrome

Hum Genet. 1980;54(1):13-18. doi: 10.1007/BF00279043.

Abstract

A patient with typical Potter's syndrome and full trisomy 7 is described. All previous reports on chromosome 7 abnormalities, whether monosomic or trisomic, p or q, are reviewed and discussed, establishing two 7q trisomy syndromes: 7q22 ts leads 7q31 and 7q22, q31 leads to 7qter. Some implications of the finding of full trisomy 7 in a case of Potter's syndrome are discussed.

MeSH terms

  • Autopsy
  • Bone and Bones / abnormalities*
  • Chromosomes, Human, 6-12 and X*
  • Craniofacial Dysostosis / genetics*
  • Diseases in Twins*
  • Face / abnormalities
  • Female
  • Humans
  • Hypertelorism / genetics*
  • Infant, Newborn
  • Karyotyping
  • Kidney / abnormalities*
  • Muscles / ultrastructure
  • Skin / ultrastructure
  • Syndrome
  • Trisomy*