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17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L. Rasmussen M, et al. Am J Med Genet A. 2016 Nov;170(11):2934-2942. doi: 10.1002/ajmg.a.37848. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27409573 Review.
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). ...We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 ph
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosoma
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Bierhals T, et al. Am J Med Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307502 Review.
We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also share our thoughts on submicroscopic complexity that may underlie, at least in part, the wide range of phenotypes in patients with 17q12
We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also shar …