Resumé
Originalsprog | Dansk |
---|---|
Artikelnummer | V08190452 |
Tidsskrift | Ugeskrift for Laeger |
Vol/bind | 181 |
ISSN | 0041-5782 |
Status | E-pub ahead of print - 18. nov. 2019 |
Fingeraftryk
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17q12-deletion som mulig årsag til dorsal pancreasagenesi og polycystisk nyresygdom. / Andersen, Balder Bille; Schaffalitzky, Ove B.
I: Ugeskrift for Laeger, Bind 181, V08190452, 18.11.2019.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
TY - JOUR
T1 - 17q12-deletion som mulig årsag til dorsal pancreasagenesi og polycystisk nyresygdom
AU - Andersen, Balder Bille
AU - Schaffalitzky, Ove B.
PY - 2019/11/18
Y1 - 2019/11/18
N2 - 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.
AB - 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.
M3 - Tidsskriftartikel
VL - 181
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
M1 - V08190452
ER -