Structural chromosomal rearrangements occur
with a frequency of about 0.7–2.4 per 1000
mentally retarded individuals. Small supernumerary
chromosomes are observed about
once in 2500 prenatal diagnoses. In both situations
it is mandatory to identify the chromosome
or chromosomes involved. Many small
changes cannot be identified with conventional
light-microscopic chromosome analysis, even
in the best preparations using one of the banding
techniques. The proportion of identifiable
aberrations can be greatly enhanced by
molecular cytogenetics
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