Clinical Photos: X-linked conditions

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Clinical photographs of X-linked conditionsThis PowerPoint file contains a number of slides that may be useful for your teaching of genetics concepts.

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

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 1.4 ©Scion Publishing LtdHistology photos courtesy of Dr Richard Charlton

Duchenne muscular dystrophy(a) Affected boys stand up by bracing their arms against their legs (Gower’s manoeuvre) because their proximal (eg muscles are weak. (b) and © Muscle histology (Gomori trichrome stain). Normal muscle (b) shows a regular architecture of cells with dystrophin (brown stain) on all the outer membranes. © Shows muscle from a 10-year-old affected boy. Note the disorganisation, invasion by fibrous tissue and complete absence of dystrophin. Histology photos courtesy of Dr Richard Charlton, Newcastle upon Tyne.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. Disease box 2 ©Scion Publishing Ltd(a) Reproduced from J. Med. Genet. 1991; 28: 742 with permission

from BMJ Publishing Group, (b) courtesy Dr Richard Gibbon

(a) A patient with ATRX (Alpha thalassaemia / mental retardation X-linked)

(b) Lymphocytes from an ATRX patient showing characteristic inclusions.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 4.2 ©Scion Publishing LtdPhotos courtesy of Medical Illustration, Manchester Royal Infirmary (a and c), and Andrew Will (b)

Effects of haemophilia(a) Bleeding around elbow. (b) A retinal bleed. (c) Repeated bleeds into joints produce severe arthritis.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. Disease box 7 ©Scion Publishing Ltd

A girl with Rett syndrome, showing the characteristic hand-wringing.