Genetisk udredning ved syndromale patienter – dʼoh!

Katrine M Johannesen*, Allan Bayat

*Corresponding author af dette arbejde

Abstract

Patients come in various shapes and sizes, and even in the event of significant clinical findings such as intellectual disability and dysmorphism, consideration for the patient's need for genetic investigations, as well as the risk of incidental finding must be considered in all cases. This case story, based on a known cartoon figure, illustrates some of the challenges clinicians face when considering genetic testing.

Bidragets oversatte titelChristmas article: Genetic analysis in syndromic patients - d'oh!
OriginalsprogDansk
ArtikelnummerV80109
TidsskriftUgeskrift for Laeger
Vol/bind184
Udgave nummer50
Sider (fra-til)1-5
Antal sider5
ISSN0041-5782
StatusUdgivet - 12 dec. 2022

Emneord

  • Humans
  • Intellectual Disability/genetics
  • Genetic Testing

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