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Article

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2016

Mulchandani Surabhi, Bhoj Elizabeth J, Luo Minjie, Powell-Hamilton Nina, Jenny Kim, Gripp Karen W, Elbracht Miriam, Eggermann Thomas, Turner Claire L S, Temple I Karen, Mackay Deborah J G, Dubbs Holly, Stevenson David A, Slattery Leah, Zackai Elaine H, Spinner Nancy B, Krantz Ian D, Conlin Laura K

Abstract excerpt

PURPOSE: Maternal uniparental disomy of chromosome 20 (UPD(20)mat) has been reported in only four patients, three of whom also had mosaicism for complete or partial trisomy of chromosome 20. We sought to evaluate the clinical significance of isolated UPD(20)mat in eight individuals. METHODS: We evaluated phenotypic and genomic findings of a series of eight new patients with UPD(20)mat. RESULTS: All eight...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26248010
DOI: 10.1038/gim.2015.103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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