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Chromosomal abnormalities, alterations and aberrations are at the root of many inherited diseases and traits. Chromosomal abnormalities often give rise to birth defects and congenital conditions that may develop during an individual’s lifetime. Numerical chromosome abnormalities (aneuploidies) can occur with either the autosomes or the sex chromosomes. Monosomy is the absence of a chromosomal region or entire chromosome, resulting in only one copy of the genetic material, while trisomy is the presence of an extra chromosomal region or entire chromosome, resulting in three copies of the genetic material.
