Interstitial deletion of 10q: clinical features and literature review

Am J Med Genet. 1992 Jul 1;43(4):701-3. doi: 10.1002/ajmg.1320430410.


We report on a patient with interstitial deletion of 10q and compare her to 8 previously described patients, 2 of whom have chromosomal breakpoints similar to our patient. Minor anomalies including broad forehead, hypertelorism, strabismus, prominent philtrum, and "dysplastic" pinnae are present in our patient. Psychomotor retardation and hypotonia are universal findings in 10q interstitial deletion. Growth retardation, not present in our patient, is seen in some. These clinical findings are sufficiently distinct to suggest early chromosome studies.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / physiopathology
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 10*
  • Female
  • Growth
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Karyotyping