The Tiny Guide To Trisomy 18
Trisomy 18 is caused by an extra copy of Chromosome 18. In its normal condition, the presence of Chromosome 18 has two copies. In Trisomy 18 there are 3 copies of Chromosome 18.
Trisomy 18 is not an inherent syndrome, it is an error occurred during conceiving period. As a result the affected one dies before the birth in some cases.
And half of the infants born with this syndrome cannot survive more than 1 week after the birth. Just about 7 to 8% of infants see about 1 year of their life.
Chromosomes are long pieces of DNA found in the center of cells. DNA is what defines the genes.
Chromosomes are always in pairs. In perfect case, each cell in the human body has 23 pairs of chromosomes that is 46 total chromosomes. Half are from the mother and half from the father.
On an average 1 out of about 6000 born infants might be affected. And about 80 - 90% of Trisomy 18 cases are found in female babies. In most cases, the affected fetus dies before the birth takes place. The chances of curing or surviving with Trisomy 18 are extremely less.
Most of the infected infants die within 1 year of birth. And the small number of babies who survive a little longer cannot be independent till they are alive, though they can enjoy their life with their family. But the child will have several health issues and development is affected badly because of the syndrome.
The symptoms or the Physical deforms of Trisomy 18 could be: Cleft lip, a short breast bone, underdeveloped thumbs, webbing of the toes, clenched hands, crossed legs, feet with a rounded bottom, low birth weight, low-set ears, mental deficiency, small head, small jaw, underdeveloped fingernails, big space between the eyes, etc.
The child will usually encounter problems like: kidney malformations, heart defects, intestines bulging out the body, esophageal atresia, mental retardation, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth).
The British Physician and medical Geneticist John Hilton Edwards (March 26, 1928 – October 11, 2007) first discovered Trisomy 18 Syndrome in 1960. Trisomy 18 (T 18) is also called Edwards syndrome or Trisomy E.
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