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Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
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Down Syndrome Risk Factors Advanced maternal age is thought to be the greatest risk factor for Down syndrome, as a mother's eggs, when older, have more chance of chromosomal abnormalities.
Growth charts are different for boys and girls, due in part to pubertal differences and disparity in final adult height. In addition, children born prematurely and children with chromosomal abnormalities such as Down syndrome and Turner syndrome follow distinct growth curves which deviate significantly from children without these conditions. As ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
An anaphase lag of a chromosome 21 in a Down syndrome embryo leads to a fraction of euploid cells (2n cells), phenomenon described as "aneuploidy rescue". There is considerable variability in the fraction of cells with trisomy 21, both as a whole and tissue-by-tissue. This is the cause of 1–2% of the observed Down syndromes. [4]
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