[17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease].
In: Ugeskrift for laeger, Jg. 181 (2019-11-18), Heft 47
academicJournal
Zugriff:
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.
Titel: |
[17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease].
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Autor/in / Beteiligte Person: | Andersen, BB ; Schaffalitzky de Muckadell, OB |
Zeitschrift: | Ugeskrift for laeger, Jg. 181 (2019-11-18), Heft 47 |
Veröffentlichung: | Copenhagen : Den Alm Danske Laegerforening, 2019 |
Medientyp: | academicJournal |
ISSN: | 1603-6824 (electronic) |
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