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What is aneuploidy? What are the conditions caused by the aneuploidies?
The Aneuploidy is an abnormal number of chromosomes in the cells of an individual.
The major aneuploidies of the human species and their respective conditions are: the nullisomies (absence of any chromosome pair of the species, often incompatible with life); the monosomies (absence of a chromosome from a pair, for example, Turner's syndrome, 44 + X); the trisomies (an extra chromosome, for example, the triple X syndrome, 44 + XXX, or the Edwards syndrome, trisomy 18, 45 + XY or 45 + XX).
What is the aim of specialised assessment The aim of specialised assessment is often to identify a syndrome and specify its probable basis in abnormal brain function. The basi
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