Deletions and duplications of 42 Y chromosomal short tandem repeats in Chinese Han population
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DOI: 10.1007/s00414-020-02320-1
Abstract: Genotypes of 42 Y chromosome STR (Y-STR) loci were analyzed for a sample of 1420 unrelated males and 1160 father-son pairs from a Chinese Han population. Deletions of Y-STR loci were detected at DYS389I, DYS389II,… read more here.
Keywords: str loci; han population; chinese han; deletions duplications ... See more keywords
Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene
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DOI: 10.1080/00207454.2016.1255612
Abstract: ABSTRACT Aim of the study: Mutations in PARK2 are one of the causes of Parkinson's disease (PD). Deletions and duplications/triplications of one exon or exon groups account for a large proportion of mutations in the… read more here.
Keywords: patients sporadic; deletions duplications; parkinson disease; park2 ... See more keywords
Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
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DOI: 10.1212/nxg.0000000000200018
Abstract: Background and Objectives Deletions and duplications at 16p11.2 (BP4 to BP5; 29.5–30.1 Mb) have been associated with several neurodevelopmental and neuropsychiatric disorders including autism spectrum disorder, intellectual disability (ID), and schizophrenia. Seizures have also been… read more here.
Keywords: seizure; individuals 16p11; characteristics seizures; duplications 16p11 ... See more keywords
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications
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DOI: 10.1371/journal.pone.0171319
Abstract: Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that sub-chromosomal deletions or duplications associated with… read more here.
Keywords: targeted capture; chromosomal deletions; deletions duplications; sub chromosomal ... See more keywords
The spectrum of deletions and duplications in the dystrophin (DMD) gene in a cohort of patients with Duchenne muscular dystrophy in Sri Lanka
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DOI: 10.4103/0028-3886.263235
Abstract: Background: Duchenne muscular dystrophy (DMD), which affects 1 in 3500 newborn males, is the most common fatal neurodegenerative disorder in children. Deletions and duplications in the DMD gene are the most common underlying etiological factors.… read more here.
Keywords: exon involvement; dmd gene; deletion; deletions duplications ... See more keywords