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Article

Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia.

British journal of haematology - 1 Oct 2011

Ripperger Tim, Tauscher Marcel, Praulich Inka, Pabst Brigitte, Teigler-Schlegel Andrea, Yeoh Allen, Göhring Gudrun, Schlegelberger Brigitte, Flotho Christian, Niemeyer Charlotte M, Steinemann Doris

Abstract excerpt

Juvenile myelomonocytic leukaemia (JMML) is a unique myeloproliferative disorder of early childhood. Frequently, mutations in NRAS, KRAS, PTPN11, NF1 or CBL are found in these patients. Monosomy 7 is the most common cytogenetic aberration. To identify submicroscopic genomic copy number alterations, 20 JMML samples were analysed by comparative genomic hybridization. Ten out of 20 samples displayed additional...

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Topics

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Share to Chromosomes, Human, Pair 7
Share to Chromosomes, Human, Pair 8

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Duplication

Share to Gene Expression Regulation, Leukemic

Share to Genes, Neoplasm

Share to Leukemia, Myelomonocytic, Juvenile

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Source

Identifiers

PMID: 21848520
DOI: 10.1111/j.1365-2141.2011.08817.x

Genes

CBL
FNTA
GOLGA7
IKBKB
KRAS
NRAS
PTPN11

Provenance

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