Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]

Am J Med Genet. 1991 Oct 1;41(1):15-7. doi: 10.1002/ajmg.1320410105.

Abstract

A 27-month old boy with mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects was found to have an interstitial deletion of chromosome 18 involving band q12.1 or q12.3

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18*
  • Developmental Disabilities / genetics*
  • Humans
  • Male
  • Phenotype