Partial trisomy 12q: clinical and cytogenetic observations

Clin Genet. 1985 Aug;28(2):112-7. doi: 10.1111/j.1399-0004.1985.tb00369.x.


High resolution chromosome banding showed a male infant with profound mental retardation, hypertonia and multiple congenital anomalies to have the karyotype 46,XY,-der (2),t(2;12)(q37.3;q24.13)pat. Most of the clinical findings were compatible with those of the previously described cases with partial trisomy 12q. Some of the clinical features seem to disappear with increasing age.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosomes, Human, 6-12 and X*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Phenotype
  • Trisomy*