Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

J Med Genet. 2003 Aug;40(8):e93. doi: 10.1136/jmg.40.8.e93.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosome Inversion
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Gastroesophageal Reflux / diagnosis
  • Gastroesophageal Reflux / genetics
  • Gene Duplication
  • Humans
  • Infant
  • Meiosis / genetics*
  • Mosaicism / diagnosis
  • Mosaicism / genetics*
  • Receptors, Odorant / genetics*

Substances

  • Receptors, Odorant