Inconclusive Duchenne Muscular Dystrophy (DMD) carrier screening and atypical SNP-based NIPS sex chromosomes analysis suggest maternal sex chromosome abnormality
Genetics in Medicine(2022)
Abstract
As of 2021, ACMG has expanded the recommended carrier screening panel to constitute 113 genes, now including the X-linked Duchenne Muscular Dystrophy (DMD) gene. Copy number variant (CNV) analysis by next-generation sequencing (NGS) of DMD yields inconclusive results for a small number of individuals due to the duplication/deletion of all DMD exons and adjacent regions on the X chromosome. In addition, a small number of SNP-based noninvasive prenatal screening (NIPS) tests yield no results for sex chromosomes due to a suspected maternal X chromosome abnormality.
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Key words
inconclusive duchenne muscular dystrophy,nips sex chromosomes analysis,dmd,carrier screening,snp-based
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