chromosomal disorders

Chromosomes  are located in the cell nucleus and are the carriers of our genetic information (DNA). So they contain our genes. As a rule, there are 23 pairs of chromosomes in each cell, i.e. a total of 46 chromosomes (with the exception of sperm and egg cells, which contain only one chromosome). Sometimes there are so-called chromosomal disorders (chromosome aberrations). This means that the chromosomes are altered either in terms of their number or their structure. Such anomalies are often favored by the older mother during pregnancy.

Known forms of chromosomal abnormalities are, for example,  trisomy 21  (Down syndrome), trisomy 18 (Edwards syndrome) or trisomy 13 (Pätau syndrome). Disorders on the sex chromosomes (X and Y chromosome) can result in XXY syndrome (Klinefelter syndrome) or monosomy X (Turner syndrome), for example. In the case of structural anomalies, for example, parts of chromosomes are duplicated (addition) or missing (deletion) – an example is the so-called cat cry syndrome.


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