Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read‐Depth Based Algorithm

Movement Disorders Clinical PracticeEarly View LETTERS: GENOTYPE AND PHENOTYPE Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read-Depth Based Algorithm Charlotte Mouraux MD, Corresponding Author Charlotte Mouraux MD [email protected] orcid.org/0000-0001-9569-9229 Department of Neurology, Centre Hospitalier Universitaire, CHU, Liège, Belgium Correspondence to: Dr. Charlotte Mouraux, Department of Neurology and Genetics, University Hospital of Liège, 1 Avenue de l'Hôpital, 4000 Liège, Belgium. E-mail: [email protected]Search for more papers by this authorFrédérique Depierreux MD, PhD, Frédérique Depierreux MD, PhD Department of Neurology, Centre Hospitalier Universitaire, CHU, Liège, Belgium GIGA–CRC in vivo imaging, University of Liège, Liège, BelgiumSearch for more papers by this author Charlotte Mouraux MD, Corresponding Author Charlotte Mouraux MD [email protected] orcid.org/0000-0001-9569-9229 Department of Neurology, Centre Hospitalier Universitaire, CHU, Liège, Belgium Correspondence to: Dr. Charlotte Mouraux, Department of Neurology and Genetics, University Hospital of Liège, 1 Avenue de l'Hôpital, 4000 Liège, Belgium. E-mail: [email protected]Search for more papers by this authorFrédérique Depierreux MD, PhD, Frédérique Depierreux MD, PhD Department of Neurology, Centre Hospitalier Universitaire, CHU, Liège, Belgium GIGA–CRC in vivo imaging, University of Liège, Liège, BelgiumSearch for more papers by this author First published: 14 August 2023 https://doi.org/10.1002/mdc3.13865Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Turleau C. Monosomy 18p. Orphanet J Rare Dis 2008; 3: 1–5. 2Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, et al. A review of 18p deletions. Am J Med Genet Part C Semin Med Genet 2015; 169(3): 251–264. 3Crosiers D, Blaumeiser B, Van Goethem G. Spectrum of movement disorders in 18p deletion syndrome. Mov Disord Clin Pract 2019; 6(1): 70–73. 4Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics 2012; 28(21): 2747–2754. 5Thomas MK, Udipi GA, Seshadri SP. Clinical practice guidelines for assessment and management of intellectual disability. Ind J Psychiatry 2019; 61: S194–S210. 6Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86(5): 749–764. 7Marchuk DS, Crooks K, Strande N, et al. Increasing the diagnostic yield of exome sequencing by copy number variant analysis. PLoS One 2018; 13:e0209185. Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation