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Article

Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.

Genes, chromosomes & cancer - 1 Jan 2017

Nacci Lucia, Valli Roberto, Maria Pinto Rita, Zecca Marco, Cipolli Marco, Morini Jacopo, Cesaro Simone, Boveri Emanuela, Rosti Vittorio, Corti Paola, Ambroni Maura, Pasquali Francesco, Danesino Cesare, Maserati Emanuela, Minelli Antonella

Abstract excerpt

Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction. Mutations in the SBDS gene cause SDS. Clonal chromosome anomalies are often present in BM, i(7)(q10) and del(20q) being the most frequent ones. We collected 6 SDS cases with del(20q): a cluster of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27553422
DOI: 10.1002/gcc.22401

Genes

SDS
SBDS
SGK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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