Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

BMC Res Notes. 2014 Apr 17:7:248. doi: 10.1186/1756-0500-7-248.


Background: Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with three family cases. Phenotype-genotype correlation is not very clear and the most common features are characteristic facial dysmorphisms, palate anomalies and developmental delay. Growth retardation is not typical and other major malformations are reported in some cases.

Case presentation: We described a child with 11q interstitial deletion diagnosed at birth with hypotonia and minor dysmorphisms using standard cytogenetic techniques; array CGH was subsequently performed to define the deletion at a molecular level.

Conclusions: This case gave us the opportunity to attempt a genotype-phenotype correlation reviewing the literature and to describe a rehabilitative program that improved the development perspectives of this child.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Cytogenetic Analysis
  • Follow-Up Studies
  • Genome, Human
  • Humans
  • Infant
  • Infant, Newborn
  • Jacobsen Distal 11q Deletion Syndrome / genetics*
  • Jacobsen Distal 11q Deletion Syndrome / psychology*
  • Male
  • Neuropsychological Tests*