Abstract

Chromosome abnormalities are common in humans, with approximately 0.6% present in newborns, 6% in stillbirths and 60% in spontaneous abortions. In comparison to other species, humans appear to have the highest incidence of chromosome anomalies with up to 50% of conceptions being abnormal (Bond and Chandley 1983; Boue et al., 1975). Most chromosome abnormalities are lethal and are lost early in embryologic development, manifesting as infertility or spontaneous abortions. Chromosomally abnormal concepti that survive to term include trisomy 13, 18, 21 and aneuploidy for the sex chromosomes as well as some structural alterations such as translocations and inversions (Jacobs 1992). Children with these chromosome abnormalities often have physical disabilities, reduced intellectual capabilities, behavioural problems, and/or impaired sexual development.

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