Brief clinical report: interstitial deletion of the long arm of chromosome 4, del(4)(q28-->q31.3)

Am J Med Genet. 1995 Jan 2;55(1):77-9. doi: 10.1002/ajmg.1320550120.

Abstract

Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Bone and Bones / abnormalities
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • Female
  • Growth Disorders / genetics
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Synostosis / genetics