Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24)

Am J Med Genet. 1997 Aug 22;71(3):275-9. doi: 10.1002/(sici)1096-8628(19970822)71:3<275::aid-ajmg5>;2-t.


We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17)(q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date. These findings and those of 4 others from the literature, with overlapping deletions of 17q and breakpoints between 17q21-17q24, are reviewed and compared. Similar phenotypic findings include growth retardation, global developmental delay, and specific musculoskeletal and craniofacial anomalies. The size of the specific deletion, and the proximal and distal breakpoints at this region of chromosome 17q, appear to be important in determining morbidity from cardiac involvement and may affect the extent of developmental delay.

Publication types

  • Case Reports
  • Comparative Study
  • Review

MeSH terms

  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / genetics
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 17 / genetics*
  • Chromosomes, Human, Pair 17 / ultrastructure
  • Developmental Disabilities / genetics*
  • Diagnosis, Differential
  • Female
  • Hand Deformities, Congenital / genetics
  • Humans
  • Phenotype