Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations

J Med Genet. 2002 Feb;39(2):E6. doi: 10.1136/jmg.39.2.e6.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 22 / genetics*
  • Cytogenetic Analysis
  • Female
  • Humans
  • Infant
  • Neurofibromatosis 2 / diagnosis
  • Neurofibromatosis 2 / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Somatoform Disorders* / diagnostic imaging
  • Ultrasonography