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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 emphasize that renal disease, learning disability, behavioral abnormalities, epilepsy, autism, schizo
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 report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white matter who inherited a 17q12 tandem duplication of ~1.4 Mb from his healthy father. Copy number variations in this chromoso
We report on a child with developmental delay, seizures, microcephaly, hypotonia, unusual stereotypical movements, and changes in the white …