Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations
Author:
Affiliation:
1. Pediatrics Department; Tawam Hospital; Al-Ain United Arab Emirates
2. Pediatric Department; Jordan University of Science and Technology; Jordan
3. Division of Clinical Genetics and Metabolic Disorders; Tawam Hospital; Al-Ain United Arab Emirates
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12872/fullpdf
Reference17 articles.
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3. Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray;Fan;Mol Cytogenet,2013
4. Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations;Kearney;Clin Lab Med,2011
5. UPD detection using homozygosity profiling with a SNP genotyping microarray;Papenhausen;Am J Med Genet A,2011
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