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Article

1q21.1 Microduplication expression in adults.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2013

Dolcetti Alessia, Silversides Candice K, Marshall Christian R, Lionel Anath C, Stavropoulos Dimitri J, Scherer Stephen W, Bassett Anne S

Abstract excerpt

PURPOSE: Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling. METHODS: A systematic review of 22 studies reporting 107 individuals (59 children and 48 adults) with 1q21.1 duplications was conducted. We compiled the available phenotypic data to...

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Share to Chromosomes, Human, Pair 1
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 23018752
DOI: 10.1038/gim.2012.129
PMCID: PMC3817079

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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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