Array CGH defined interstitial deletion on chromosome 14: a new case

Eur J Pediatr. 2010 Jul;169(7):845-51. doi: 10.1007/s00431-009-1128-4. Epub 2010 Jan 21.


Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 14*
  • Comparative Genomic Hybridization
  • Face / abnormalities*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Psychomotor Disorders / genetics*