Terminal deletion of long arm of chromosome 4: patient report and literature review

Genet Couns. 1993;4(2):139-45.


We report on a girl with a terminal deletion (46,XX,del(4)(q33-->ter). She presented with developmental delay and slight facial dysmorphism. The clinical features are compared with the patients in the literature and a review of the psychologic data is given.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aspartylglucosaminuria
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • Developmental Disabilities / genetics*
  • Face / abnormalities*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Infant, Premature, Diseases / genetics*
  • Intellectual Disability / genetics