Abstract
In this chapter we present several of the most common and best understood chromosomal and genomic disorders encountered in clinical practice, building on the general principles of clinical cytogenetics and genome analysis introduced in the previous chapter. Each of the disorders presented here illustrates the principles of dosage balance and imbalance at the level of chromosomes and subchromosomal regions of the genome. Because a wide range of phenotypes seen in clinical medicine involves chromosome and subchromosomal variants, we include in this chapter the spectrum of disorders that are characterized by intellectual disability or by abnormal or ambiguous sexual development. Although many such disorders can be determined by single genes, the clinical approach to evaluation of such phenotypes frequently includes detailed chromosome and genome analysis.
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