1. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Clinical photographs of X-linked conditions
This 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.

2. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 1.4 ©Scion Publishing Ltd
Histology 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.

3. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.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.

4. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 4.2 ©Scion Publishing Ltd
Photos 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.

5. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. Disease box 7 ©Scion Publishing Ltd
A girl with Rett syndrome, showing the characteristic hand-wringing.

6. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. Disease box 7 ©Scion Publishing Ltd
A girl with Rett syndrome, showing the characteristic hand-wringing.