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Article

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

European journal of medical genetics - 1 Jan 2000

Bliek J, Snijder S, Maas S M, Polstra A, van der Lip K, Alders M, Knegt A C, Mannens M M A M

Abstract excerpt

We report on two families in which the parental origin of duplications of the BWS imprinted regions on chromosome 11p15 influences the phenotype. In family A the transmission of a t(4; 11)(q35; p15.5) translocation results in duplication of BWSIC1 and BWSIC2. If this duplication is transmitted from the father, the extra chromosomal material has the paternal imprint. This results in overexpression of IGF2 and...

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Source

Identifiers

PMID: 19735747
DOI: 10.1016/j.ejmg.2009.08.006

Genes

IGF2

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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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Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.PMID 19735747Read ↗

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Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.Semantic proximity Read ↗

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