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

Balder Bille Andersen, Ove B. Schaffalitzky

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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.
OriginalsprogDansk
ArtikelnummerV08190452
TidsskriftUgeskrift for Laeger
Vol/bind181
ISSN0041-5782
StatusE-pub ahead of print - 18. nov. 2019

Fingeraftryk

Asperger Syndrome
Chromosome Deletion
Pancreas

Citer dette

@article{1337c7f4990d4d56a73c97b54538454c,
title = "17q12-deletion som mulig {\aa}rsag til dorsal pancreasagenesi og polycystisk nyresygdom",
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.",
author = "Andersen, {Balder Bille} and Schaffalitzky, {Ove B.}",
year = "2019",
month = "11",
day = "18",
language = "Dansk",
volume = "181",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",

}

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 tidsskriftTidsskriftartikelForskningpeer 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 -