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.

Authors

Lucia Nacci¹, Cesare Danesino, Laura Sainati, Daniela Longoni, Furio Poli, Marco Cipolli, Sandra Perobelli, Elena Nicolis, Zemira Cannioto, Jacopo Morini, Roberto Valli, Francesco Pasquali, Antonella Minelli

Affiliation

¹ Medical Genetics, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

PMID: 24484588
DOI: 10.1111/bjh.12767

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