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Article

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

Blood - 15 Aug 2008

Shinawi Marwan, Erez Ayelet, Shardy Deborah L, Lee Brendan, Naeem Rizwan, Weissenberger George, Chinault A Craig, Cheung Sau Wai, Plon Sharon E

Abstract excerpt

Several lines of evidence support the presence of dosage-sensitive genes on chromosome 21 that regulate leukemogenesis and hematopoiesis. We report a detailed clinical and molecular characterization of 3 patients with chronic thrombocytopenia caused by distinct constitutional microdeletions involving chromosomal region 21q22.12. The patients exhibited growth restriction, dysmorphic features, and developmental...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 21

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Core Binding Factor Alpha 2 Subunit

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Share to Leukemia, Myeloid, Acute

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Source

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Identifiers

PMID: 18487507
DOI: 10.1182/blood-2008-01-135970
PMCID: PMC2515126

Genes

RUNX1
CLIC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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