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Article

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

European journal of human genetics : EJHG - 1 Jul 2012

Rosenfeld Jill A, Traylor Ryan N, Schaefer G Bradley, McPherson Elizabeth W, Ballif Blake C, Klopocki Eva, Mundlos Stefan, Shaffer Lisa G, Aylsworth Arthur S

Abstract excerpt

Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental phenotypes, have been more extensively studied than proximal microdeletions and microduplications. Proximal...

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Identifiers

PMID: 22317977
DOI: 10.1038/ejhg.2012.6
PMCID: PMC3376272

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