Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

We investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions of copy-number-neutral absence of heterozygosity (AOH) in subjects with multiple congenital abnormalities. Molecular analyses provided observational...

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Veröffentlicht in:	American journal of human genetics 2015-04, Vol.96 (4), p.555-564
Hauptverfasser:	Carvalho, Claudia M.B., Pfundt, Rolph, King, Daniel A., Lindsay, Sarah J., Zuccherato, Luciana W., Macville, Merryn V.E., Liu, Pengfei, Johnson, Diana, Stankiewicz, Pawel, Brown, Chester W., Shaw, Chad A., Hurles, Matthew E., Ira, Grzegorz, Hastings, P.J., Brunner, Han G., Lupski, James R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Congenital diseases Deoxyribonucleic acid DNA DNA Copy Number Variations - genetics DNA Repair - genetics DNA Replication - genetics Gene Rearrangement - genetics Genetics Genomics Humans In Situ Hybridization, Fluorescence Loss of Heterozygosity - genetics Models, Genetic Molecular biology Molecular Sequence Data Netherlands Polymerase Chain Reaction Polymorphism, Single Nucleotide - genetics Sequence Analysis, DNA Uniparental Disomy - genetics
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