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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:
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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
Rachel 14.3.74 Tony 26.9.73 Susie 3.6.95 Fay 7.1.98 Jason 15.11.99 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