17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

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

doi:10.1002/ajmg.a.37848

17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

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

Medical Genetics Program

20 Citations (Scopus)

Original language	English
Journal	American Journal of Medical Genetics. Part A
Volume	170
Issue number	11
Pages (from-to)	2934-2942
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.37848
Publication status	Published - 1 Nov 2016

Keywords

17q12 deletion
17q12 duplication
chromosomal microarray
array cgh
snp array
prenatal diagnostics
genetic counselling
learning disability
kidney anomalies

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10.1002/ajmg.a.37848

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Rasmussen, M., Vestergaard, E. M., Graakjaer, J., Petkov, Y., Bache, I., Fagerberg, C., Kibaek, M., Svaneby, D., Petersen, O. B., Brasch-Andersen, C., & Sunde, L. (2016). 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, 170(11), 2934-2942. https://doi.org/10.1002/ajmg.a.37848

Rasmussen, M, Vestergaard, EM, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibaek, M, Svaneby, D, Petersen, OB, Brasch-Andersen, C & Sunde, L 2016, '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, vol. 170, no. 11, pp. 2934-2942. https://doi.org/10.1002/ajmg.a.37848

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AU - Petkov, Yanko

AU - Bache, Iben

AU - Fagerberg, Christina

AU - Kibaek, Maria

AU - Svaneby, Dea

AU - Petersen, Olav Bjorn

AU - Brasch-Andersen, Charlotte

AU - Sunde, Lone

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KW - array cgh

KW - snp array

KW - prenatal diagnostics

KW - genetic counselling

KW - learning disability

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17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

Keywords

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