Identification of Pathogenic CNVs in Unexplained Developmental Disabilities Using Exome Sequencing: A Family Trio Study View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-11-18

AUTHORS

O. Yu. Naumova, P. V. Dobrynin, E. A. Gibitova, M. A. Zhukova, S. Yu. Rychkov, O. V. Zhukova, E. L. Grigorenko

ABSTRACT

This short report on a family case-study provides evidence of the effectiveness of exome sequencing of family trios (proband-parents) as the first-tier test in genomic diagnostics of unexplained developmental delays and disorders, as a genomic screening for both pathogenic single-nucleotide variants and copy number variations (CNVs). In this study, we identified several clinically significant de novo structural genomic variations in the proband’s genome, specifically those associated with the 17p11.2 duplication (or Potocki–Lupski) syndrome. These genome rearrangements were externally confirmed by certified clinical laboratories using both FISH and MLPA techniques. More... »

PAGES

1351-1355

Identifiers

URI

http://scigraph.springernature.com/pub.10.1134/s1022795421110090

DOI

http://dx.doi.org/10.1134/s1022795421110090

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1142679445


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