This document contains a PowerPoint file with slides that provide clinical photographs of various autosomal recessive conditions. The slides can be used for non-commercial educational purposes and include images of symptoms for conditions such as cystic fibrosis, sickle cell disease, thalassemia, congenital deafness, congenital adrenal hyperplasia, Tay-Sachs disease, and phenylketonuria (PKU). The images depict characteristics like lung abnormalities, abnormal blood cells, bone changes, genetic mutations, ambiguous genitalia, retinal abnormalities, and the effects of untreated PKU.

1. © 2009 NHS National Genetics Education and Development Centre Genetics 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 Centre Genetics 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
Children’s Hospital.

3. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 1.3 ©Scion Publishing Ltd
Result of a hearing test
(a) Testing a baby’s 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 Centre Genetics 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 Centre Genetics 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 Pert’s stain, showing iron
overload.

6. © 2009 NHS National Genetics Education and Development Centre Genetics 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 Centre Genetics 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 Centre Genetics 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 Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 11.1 ©Scion Publishing Ltd
A patient with untreated PKU.

10. © 2009 NHS National Genetics Education and Development Centre Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Fig. 11.1 ©Scion Publishing Ltd
A patient with untreated PKU.