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Article

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

American journal of medical genetics. Part A - 1 Nov 2016

Rasmussen Maria, Vestergaard Else Marie, Graakjaer Jesper, Petkov Yanko, Bache Iben, Fagerberg Christina, Kibaek Maria, Svaneby Dea, Petersen Olav Bjørn, Brasch-Andersen Charlotte, Sunde Lone

Abstract excerpt

17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27409573
DOI: 10.1002/ajmg.a.37848

Genes

ACACA
LHX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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