Clinical Photos - Autosomal Recessive conditions

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Clinical photographs of autosomal

recessive 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.



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.



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).




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.



Fig. 5.1 ©Scion Publishing LtdPhotos 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.




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.




Ambiguous genitalia of a baby girl with the simple virilizing form of congenital adrenal hyperplasia.



Fig. 10.1 ©Scion Publishing LtdPhotos 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.




A patient with untreated PKU.

Clinical Photos - Autosomal Recessive conditions

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