17q12-deletion som mulig årsag til dorsal pancreasagenesi og polycystisk nyresygdom

Translated title of the contribution: 17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease

Balder Bille Andersen, Ove B. Schaffalitzky

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

This case report describes the diagnostic approach to an 18-year-old woman, known with Asperger’s syndrome (AS). She presented with abdominal pain, weight loss, nausea and a loss of appetite. Ultrasound and magnetic resonance imaging showed polycystic kidney disease (PKD) and agenesis of the dorsal pancreas (DPA). Genetic testing revealed a 1.5 mega-base deletion at chromosome 17q12, which included the HNF1β. She was diagnosed with 17q12 microdeletion syndrome, which could explain the presence of both DPA, PKD and AS.
Translated title of the contribution17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease
Original languageDanish
Article numberV08190452
JournalUgeskrift for Laeger
Volume182
Issue number15
ISSN0041-5782
Publication statusPublished - 2020

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