Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.

Rong ZhangFlorian MarschFranziska KauseFranziska DegenhardtEeberhard SchmiedekeStefanie MärzheuserBernd HoppeHaitham BachourThomas M BoemersMatthias SchäferNicole SpychalskiJörg NeserJohannes LeonhardtFerdinand KoschBenno UreBarbara GómezMartin LacherOliver J DeffaaMarkus PaltaBoris WittekindtKatharina KleineAndrea SchmeddingSabine Grasshoff-DerrAmelie van der VenStefanie Heilmann-HeimbachNadine ZwinkEkkehart JenetzkyMichael LudwigHeiko Martin Reutter

Published in: Birth defects research (2017)

In two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER/VACTERL or VATER/VACTERL-like phenotypes. Birth Defects Research 109:1063-1069, 2017. © 2017 Wiley Periodicals, Inc.

Keyphrases

copy number
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
genome wide
gene expression
patient reported outcomes
high resolution
mass spectrometry
high throughput
patient reported
preterm birth