Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion

Hum Genet. 1986 Nov;74(3):235-8. doi: 10.1007/BF00282540.


Complete absence of human somatomammotropin (hCS) was demonstrated in two patients experiencing an otherwise uneventful pregnancy. After delivery, DNA was prepared from the neonate blood or from the placenta and the integrity of the hCS-hGH gene cluster was investigated by Southern blotting and hybridization with an hCS cDNA probe. Patient 1 was found to be homozygous for a deletion involving hCS-A, hGH-V, and hCS-B. Patient 2 was a double heterozygote, with one chromosome bearing the same deletion as that of patient 1, while in the other, only the hCS-A gene was missing. Considerations relative to the frequency of the defect are derived from the present results.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17 / ultrastructure*
  • DNA / analysis
  • Female
  • Genes
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Male
  • Placental Lactogen / deficiency*
  • Placental Lactogen / genetics
  • Polymorphism, Restriction Fragment Length
  • Pregnancy


  • Genetic Markers
  • DNA
  • Placental Lactogen