Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome

Br J Haematol. 2014 May;165(4):573-5. doi: 10.1111/bjh.12767. Epub 2014 Feb 1.
No abstract available

Keywords: SBDS; Shwachman-Diamond syndrome; chromosomal rearrangements; microsatellite analysis; myelodysplastic syndrome.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow / pathology
  • Bone Marrow Diseases / genetics*
  • Bone Marrow Diseases / pathology
  • Chromosomes, Human, Pair 7 / genetics*
  • Exocrine Pancreatic Insufficiency / genetics*
  • Exocrine Pancreatic Insufficiency / pathology
  • Exons / genetics
  • Gene Dosage*
  • Genotype
  • Humans
  • Lipomatosis / genetics*
  • Lipomatosis / pathology
  • Loss of Heterozygosity*
  • Sequence Analysis, DNA
  • Shwachman-Diamond Syndrome