1. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Clinical photographs of autosomal recessive 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 CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 1.2 ©Scion Publishing Ltd Photos (a) and (b) courtesy of Dr Tim David Cystic fibrosis (a) The outlook for cystic fibrosis patients has improved over the years but they still need frequent hospital admissions, physiotherapy and constant medications. (b) Chest X-ray of lungs of cystic fibrosis patient. © Erect abdominal film of newborn with meconium ileus showing multiple fluid levels. Photos (a) and (b) courtesy of Dr Tim David, Royal Manchester Childrens Hospital.

3. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 1.3 ©Scion Publishing Ltd Result of a hearing test (a) Testing a babys hearing by checking the auditory brain stem response. (b) Audiogram showing bilateral severe-profound hearing loss. The horizontal axis shows the frequency and the vertical axis the hearing threshold in decibels. Different symbols are used for readings from the two ears. 0-20 dB is normal hearing; hearing loss is defined as 20-40 dB (mild), 40-70 dB (moderate). 70-95 dB (severe), over 95dB (profound).

4. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 4.1 ©Scion Publishing Ltd Sickle cell disease. (a) Blood film showing a sickled cell, marked poikilocytosis (abnormally shaped red cells) and a nucleated red cell. (b and c) Bony infarcations in the phalanges and metacarpals can result in unequal finger length.

5. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 5.1 ©Scion Publishing Ltd Photos courtesy of Dr Andrew Will. Effects of thalassaemia. (a) Blood film with very marked hypochromia and many nucleated red cells. (b) osteoporotic appearance of hands due to bone marrow extension © hair on end skull. (d) liver biopsy with Perts stain, showing iron overload.

6. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 6.2 ©Scion Publishing Ltd The c.35delG mutation in the connexin 26 (GJB2) gene This gene is a frequent cause of autosomal recessive congenital deafness. One G nucleotide out of a run of 6 Gs is deleted. Reading the frameshifted message the ribosome quickly hits a stop codon. The GJB2 gene has only two exons. Coding sequence is shown in black; the coloured parts of exons 1 and 2 encode the 5 and 3 untranslated regions of the mRNA. Diagram is not to scale.

7. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 8.1 ©Scion Publishing Ltd Ambiguous genitalia of a baby girl with the simple virilizing form of congenital adrenal hyperplasia.

8. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 10.1 ©Scion Publishing Ltd Photos courtesy of Drs Ed Wraith and Guy Besley (a) The characteristic cherry red spot on the retina of a child with Tay-Sachs disease. (b) Ballooned neurons in the central nervous system (arrows). (c) Abnormal cell bodies seen under the electron microscope. (d) Vacuolated lymphocytes. These are typical features of lysosomal storage diseases.

9. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 11.1 ©Scion Publishing Ltd A patient with untreated PKU.