Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
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Dear Editor, Few cases involving deletions and duplications of the short arm of chromosome 20 have been reported; these patients present various phenotypes, including developmental delays and dysmorphic features [1-10]. In the majority of cases, 20p deletions and duplications are accompanied by defects in other chromosomes [1-3]. Here, we report a patient with a complex partial deletion and duplication involving 20p only, identified by chromosomal microarray (CMA)
Abstract
Dear Editor, Few cases involving deletions and duplications of the short arm of chromosome 20 have been reported; these patients present various phenotypes, including developmental delays and dysmorphic features [1-10]. In the majority of cases, 20p deletions and duplications are accompanied by defects in other chromosomes [1-3]. Here, we report a patient with a complex partial deletion and duplication involving 20p only, identified by chromosomal microarray (CMA)
참고문헌 (10)
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