X-Linked Conditions: Case Scenarios

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Presentation transcript:

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.

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

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

Jason’s family tree 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 Jason 15.11.99 Rachel 14.3.74 Tony 26.9.73 Susie 3.6.95 Fay 7.1.98