© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

X-Linked Conditions: Case Scenarios

This PowerPoint file contains a number of slides that may be useful for teaching of genetics concepts.

You may use these slides and their contents for non-commercial educational purposes.

This presentation includes:

• A Duchenne muscular dystrophy pedigree showing X-linked inheritance• A pedigree used to assess risk of DMD in offspring• A DMD case scenario.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

The X chromosome carrying the disease-causing mutation can be tracked through the family

DMD Pedigree

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

“Will I have a boy with Duchenne Muscular Dystrophy?”

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Jason’s family tree

Jason

15.11.99

Rachel

14.3.74 Tony

26.9.73

Susie

3.6.95

Fay

7.1.98

Jason, aged 3 yrs referred to a paediatrician by his GP

•Later walking than older siblings•Difficulty running and riding tricycle•Always climbs up stairs on all fours