A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.
Background With recent advances in array comparative genomic hybridization (aCGH) methods, several, previously unrecognized pathogenic copy number variants (CNVs) have been recognized. Intrachromosomal triplications are rare and have been reported in a few genomic regions. In this report, we describ...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Discover STM Publishing Ltd
2019-06-01
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Series: | Journal of Biochemical and Clinical Genetics |
Subjects: | |
Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=25413 |