Trisomy refers to a chromosomal disorder or polysomy where a certain chromosome occurs in three instances instead of the usual two instances. Basically, a trisomy is a form of aneuploidy or abnormal chromosomes number. Several types of trisomy exist. They include Down syndrome, Pataus syndrome and Edward syndrome. These chromosome disorders can be diagnosed through maternal amniocentesis, serum screening, sampling of chronic villi and ultrasound.
Normal human beings have 23 pairs of chromosomes. Two of these are sex chromosomes and they are responsible for determining gender of a person while 44 chromosomes dictate the other factors of an individual including function and growth.
Chromosome disorder occurs when the genetic structure or number of chromosomes is altered. In trisomy, which denotes three bodies, an individual has 47 chromosomes rather than the normal 46. Children born with trisomy have several birth defects ranging from intellectual disabilities to delayed development.
Trisomy can be full, partial, secondary or tertiary.
Full trisomy occurs when a whole chromosome is copied.
Partial trisomy implies that an individual has an extra copy of the chromosome. Secondary trisomy occurs when arms of an extra chromosome are duplicated. This implies that the chromosome has identical arms. In tertiary trisomy, the extra chromosome has arms copies from the other two chromosomes.
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Trisomy can happen with any chromosome. However, it causes miscarriage in most cases instead of live birth. For instance, the most common trisomy among humans is trisomy 16. It occurs in over 1% of human pregnancies and only pregnancies where normal cells occur with mosaic trisomy 16 or trisomic cells survive. However, this condition causes spontaneous miscarriage during the first trimester.
Common types of trisomy that reach birth include trisomy 8(Warkany syndrome 2), trisomy 9, Trisomy 13 (Patau syndrome), trisomy 18 (Edward syndrome), trisomy 21 (Down syndrome), and trisomy 22. Every human being has chances of having a baby with trisomic condition. However, chances of having a pregnancy affected by trisomy conditions increase with the age of a mother.
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Extra chromosome addition is a spontaneous event that occurs during conception. Preventing this addition is not possible and the cause is yet to be known. Nevertheless, maternal age is the most common risk factor among human beings. Women who conceive in their 30s and 40s have higher chances of having infants with trisomy than women who conceive at a younger age.
During pregnancy, several signs of trisomy can be identified. These include excessive amniotic fluid around the baby, single artery of the umbilical cord, smaller placenta than expected, less active baby and congenital defects such as heart abnormalities or cleft palate.
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