Molecular characterization and reclassification of a 1.18Mbp DMD duplication following positive carrier screening for Duchenne/Becker Muscular Dystrophy

Autor:	Amber McDonald, Linda Hasadsri, Camille Fisher, Jordan Bontrager, Jaya George-Abraham, Cinthya Zepeda-Mendoza
Rok vydání:	2020
Předmět:	Genetics Proband Exon Likely benign business.industry Gene duplication Breakpoint Medicine Muscular dystrophy Carrier screening business medicine.disease
DOI:	10.22541/au.160503137.79086890/v1
Popis:	A 2-month-old male harboring a duplication of DMD exons 1-7 classified as pathogenic by an outside institution presented with mildly elevated CK levels; molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK levels, further supporting our reclassification.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::449a059631ff4276c69c54aa30a33778 https://doi.org/10.22541/au.160503137.79086890/v1 Zobrazit plný text záznamu