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Helen V. Firth

and Jane A. Hurst

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date: 23 May 2019

This chapter lists a range of chromosomal disorders: the 22q11 deletion syndrome, Down’s syndrome (trisomy 21), Edwards’ syndrome (trisomy 18), ring chromosomes, sex chromosome mosaicism, triploidy, Turner syndrome, and others. For each of the syndromes, special focus is given to the main clinical features. The chapter goes on to outline the main clinical features and management, as well as listing the support groups.

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