1. Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk © 2009 NHS National Genetics Education and Development Centre Clinical photographs of autosomal dominant 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. Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk © 2009 NHS National Genetics Education and Development Centre Fig. 1.1 ©Scion Publishing Ltd Photos courtesy of (a) Prof. Peter Harper and (b) Dr David Crauford Huntington disease A patient in the advanced stages of the disease showing involuntary movements of the head and face. Photos courtesy of Professor Peter Harper, Cardiff. (b) Post mortem sections comparing normal brain (left) with brain from Huntington disease patient (right); note the loss of tissue in the Huntington disease brain. Photos courtesy of Dr David Crauford, St Marys Hospital, Manchester.

3. Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk © 2009 NHS National Genetics Education and Development Centre Fig. Disease box 1 ©Scion Publishing Ltd Neurofibromatosis type 1 a) Café-au-lait skin macules b) & c) dermal neurofibromatosis

4. Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk © 2009 NHS National Genetics Education and Development Centre Fig. 3.2 ©Scion Publishing Ltd Marfan syndrome (a) Arachnodactyly (long fingers). (b ) Dislocated lens.

5. Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk © 2009 NHS National Genetics Education and Development Centre Fig. Disease box 4 ©Scion Publishing Ltd Photo. (b) reproduced courtesy of Prof. Peter Harper and gel photo. courtesy of Dr Simon Ramsden Anticipation in myotonic dystrophy. (a) A blue-dot cataract may be the only sign of the disease in the first affected generation. (b) A three generation family showing the grandmother who has bilateral cataracts but no muscle symptoms or facial weakness; her daughter has moderate facial weakness with ptosis and cataracts; the child has the congenital form. (c) A baby with the congenital form showing hypotonia. The congenital form is seen only when the child inherits the disease from its mother. It is caused by very large expansions of the CTG repeat, which are never found in sperm.

6. Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk © 2009 NHS National Genetics Education and Development Centre Fig. Disease box 5 ©Scion Publishing Ltd (a) The QT interval and (b) part of an exercise electrocardiogram showing a long QT interval (535 ms).

7. Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk © 2009 NHS National Genetics Education and Development Centre Fig. 6.1 ©Scion Publishing Ltd (b and c) Reproduced from J. Med Genet. 1999; 36: 353 with permission from the BMJ Publishing Group (a)A baby with Stickler syndrome; note the small jaw (often associated with cleft palate) and rather flat face with prominent eyes. (b)Facial features of a 4-year-old child with Stickler syndrome. (c)Typical pigmented paravascular retinal lattice degeneration.

8. Genetics and Genomics for Healthcare www.geneticseducation.nhs.uk © 2009 NHS National Genetics Education and Development Centre Fig. Disease box 11 ©Scion Publishing Ltd Photos courtesy of Dr Paul Durrington Cholesterol deposition in patients heterozygous for familial hypercholesterolemia (a, b) Tendon xanthomata, and (c) corneal arcus.