1. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk 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.

2. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.1 ©Scion Publishing Ltd Child with 22q11 deletion. Note small mouth, narrow nose and upward slant of her eyes.

3. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. Disease box 3 ©Scion Publishing Ltd (a-c) Reproduced with permission from Dr Ursula Bellugi, The Salk Institute for Biological Studies (a) Williams-Beuren syndrome (b) Drawings by people with Williams-Beuren syndrome

4. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 4.3 ©Scion Publishing Ltd Photos courtesy of Dr Bert de Vries 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 5 th finger and distal brachydactyly).