Partial duplication of 17p. A new chromosomal syndrome

Hum Genet. 1979 Jun 19;49(2):123-7. doi: 10.1007/BF00277633.

Abstract

An inherited partial duplication syndrome of 17p is described. A comparison of the symptoms of a de novo partial duplication of 17p (Latta and Hoo, 1974) and those of our own case seems to indicate a characteristic syndrome. The main features include a small-for-date baby born at full term, small stature, microcephaly, typical facial changes, a heart defect, contractures of different joints, and deformities of the feet. The patients show severe motor and mental retardation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations*
  • Chromosomes, Human, 16-18*
  • Face / abnormalities
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Phenotype
  • Syndrome