Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex

J Med Genet. 1987 Dec;24(12):786-8. doi: 10.1136/jmg.24.12.786.

Abstract

A patient with a deletion (13)(q21.3q31) showed only eczema and absent suck and swallowing reflex, in contrast to other well documented cases with a similar deletion. Apparently there is wide clinical variability in patients with deletions in this area.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Eczema / genetics*
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Psychomotor Disorders / genetics*
  • Reflex, Abnormal / genetics*