Partial deletion of chromosome 6p: delineation of the syndrome

Am J Med Genet. 1991 May 1;39(2):155-60. doi: 10.1002/ajmg.1320390208.


Here we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Adult
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 6*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Microcephaly / genetics
  • Ring Chromosomes
  • Syndrome