Trisomy 21, Klinefelter syndrome, Triple X syndrome, XYY-trisomy explained

A genetic chromosome 21 disorder causing developmental and intellectual delays. Down syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21. Down syndrome causes a distinct facial appearance, intellectual disability, developmental delays, and may be associated with thyroid or heart disease. Medical specialists will conduct additional screenings. Early intervention programs with a team of therapists and special educators who can treat each child’s specific situation are helpful in managing Down syndrome. Klinefelter syndrome Also called: XXY syndrome A genetic condition in which a male is born with an extra copy of the X chromosome Klinefelter syndrome isn’t inherited, but rather occurs only as a result of a random genetic error after conception. Males born with Klinefelter syndrome may have low testosterone and reduced muscle mass, facial hair, and body hair. Most males with this condition produce little or no sperm. Treatment may include testosterone replacement and fertility treatment. Triple X syndrome An abnormality resulting in an extra X chromosome in some females. Triple X syndrome is usually caused by malformation of an egg or sperm cell, or by an error early in embryo development. Many women have few or no symptoms. In most cases, no treatment is required. Those who experience developmental delays and learning disabilities may require interventions, such as counseling. XYY-trisomy, relatively common human sex chromosome anomaly in which a male has two Y chromosomes rather than one. It occurs in 1 in 500–1,000 live male births, and individuals with the anomaly are often characterized by tallness and severe acne and sometimes by skeletal malformations and mental deficiency. #genetics #DownSyndrome #XXYSyndrome #KlinefelterSyndrome #TripleXSyndrome #XYYtrisomy
Back to Top