A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization

Clin Genet. 2004 May;65(5):429-32. doi: 10.1111/j.0009-9163.2004.00245.x.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Activin Receptors, Type II / genetics
  • Adolescent
  • Cerebral Cortex / pathology
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • Face / abnormalities
  • Female
  • Fingers / abnormalities
  • Hirsutism / genetics
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Intellectual Disability / genetics*
  • Toes / abnormalities

Substances

  • Activin Receptors, Type II
  • activin receptor type II-A