Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome

Ann Lab Med. 2019 Mar;39(2):232-234. doi: 10.3343/alm.2019.39.2.232.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 12 / genetics
  • Comparative Genomic Hybridization*
  • DNA / analysis*
  • Humans
  • Infant
  • Male
  • Mosaicism
  • Mouth Mucosa / metabolism

Substances

  • DNA

Supplementary concepts

  • Pallister Killian syndrome