Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses

Complete uniparental isodisomy (iUPD)-the presence of two identical chromosomes in an individual that originate from only a single parental homolog-is an underestimated cause of recessive Mendelian disease in humans. Correctly identifying iUPD in an index patient is of enormous consequence to correc...

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Bibliographic Details
Published in:European journal of human genetics : EJHG 2018-09, Vol.26 (9), p.1392-1395
Main Authors: Erger, Florian, Burau, Karin, Elsässer, Michael, Zimmermann, Katharina, Moog, Ute, Netzer, Christian
Format: Article
Language:English
Subjects:
Aborted Fetus - diagnostic imaging
Aborted Fetus - pathology
Adult
Brief Communication
Chromosomes
Diagnostic Errors
Female
Genes, Recessive
Genetic analysis
Genetic Testing - standards
Genotypes
Humans
Male
Mathematical models
Prenatal Diagnosis - methods
Sequence Analysis, DNA - standards
Uniparental Disomy - diagnosis
Uniparental Disomy - genetics
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Summary:Complete uniparental isodisomy (iUPD)-the presence of two identical chromosomes in an individual that originate from only a single parental homolog-is an underestimated cause of recessive Mendelian disease in humans. Correctly identifying iUPD in an index patient is of enormous consequence to correctly counseling the family/couple, as the recurrence risk for siblings is reduced from 25% to usually
ISSN:1018-4813
1476-5438
DOI:10.1038/s41431-018-0195-2