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

Balder Bille Andersen; Ove B. Schaffalitzky

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 journal › Journal article › Research › peer-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 contribution	17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease
Original language	Danish
Article number	V08190452
Journal	Ugeskrift for Laeger
Volume	182
Issue number	15
ISSN	0041-5782
Publication status	Published - 2020

Documents & Links

https://ugeskriftet.dk/videnskab/17q12-deletion-som-mulig-arsag-til-dorsal-pancreasagenesi-og-polycystisk-nyresygdom

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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{\textquoteright}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.",

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year = "2020",

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AU - Andersen, Balder Bille

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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

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JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

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