Clinical photographs of conditions caused
by abnormalities in chromosome structure
This PowerPoint file contains a number of slides that may be useful for teaching of
genetics concepts.
You may use these slides and their contents for non-commercial educational purposes.
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
Child with 22q11 deletion. Note small mouth, narrow nose and upward slant of her eyes.
Fig. 2.1 ©Scion Publishing Ltd
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
(a) “Williams-Beuren syndrome” (b) “Drawings by people with Williams-Beuren syndrome”
Fig. Disease box 3 ©Scion Publishing Ltd
(a-c) Reproduced with permission from Dr Ursula Bellugi, The Salk Institute for Biological Studies
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
A child with multiple congenital abnormalities suggestive of a chromosome abnormality
She has severe mental retardation, growth retardation, microcephaly and dysmorphism of the face and hands
(epicanthic folds, hypertelorism, arched eyebrows, low-set ears, short philtrum, open mouth appearance, full
lips, irregular position of the lower teeth, clinodactyly of the 5th finger and distal brachydactyly).
Fig. 4.3 ©Scion Publishing Ltd
Photos courtesy of Dr Bert de Vries
© 2009 NHS National Genetics Education and Development Centre
Genetics and Genomics for Healthcare
www.geneticseducation.nhs.uk
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Chromosome structure abnormalities