Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies

Am J Med Genet A. 2013 Sep;161A(9):2393-5. doi: 10.1002/ajmg.a.36040. Epub 2013 Jul 29.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Comparative Genomic Hybridization
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Models, Genetic
  • Mosaicism*
  • Uniparental Disomy*