Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

J Med Genet. 2002 May;39(5):E24. doi: 10.1136/jmg.39.5.e24.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16 / ultrastructure*
  • Humans
  • Infant, Newborn
  • Male
  • Nucleic Acid Hybridization
  • Phenotype