Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

Clin Dysmorphol. 2000 Jan;9(1):47-53. doi: 10.1097/00019605-200009010-00010.


We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been reported in most of the previously described cases. A comparison of the features of the present patient with those in previously reported cases suggests the deletion 2q23q24 to be a clinically recognizable syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosome Fragility
  • Chromosomes, Human, Pair 2*
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Syndrome