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Updated: Apr 21, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
[Molecular genetic screening for polycystic kidney disease can be an important diagnostic tool]
Maria Rasmussen1, Bjarne Ørskov, Anne-Bine Skytte
1Klinisk Genetisk Afdeling, Aarhus Universitetshospital, Brendstrupgårdsvej 21C, 8200 Aarhus N. marirasm@rm.dk.
Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is associated with mutation in the PKD1- or PKD2-gene. We present two cases with an atypical presentation of ADPKD. Molecular genetic screening of PKD1 and PKD2 confirmed the diagnoses. Screening of PKD1 and PKD2 has become an important diagnostic tool.
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