Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions

J Med Genet. 1997 Oct;34(10):862-5. doi: 10.1136/jmg.34.10.862.

Abstract

We report a 6 year old child with a small de novo interstitial deletion of proximal 4q, karyotype 46,XX,del(4)(pter-->q12::q13.1-->qter). She has made good developmental progress and attends normal school with minimal assistance. We review published reports and clinical findings in patients with proximal 4q deletions.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • Face / abnormalities
  • Female
  • Head / abnormalities
  • Humans
  • Infant