A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis

J Med Genet. 2008 Feb;45(2):122-4. doi: 10.1136/jmg.2007.054049.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Human, Pair 2 / genetics*
  • Craniofacial Abnormalities / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Nucleic Acid Hybridization
  • Phenotype
  • Syndrome