Turner Syndrome

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Turner Syndrome
It was first described in 1930, and first diagnose in 1959. Now a days, 1 of 2,000 females are born with this syndrome. Turner syndrome (also known as TS) is named after the famous endocrinologist Henry Turner, who was the first person to described and published any findings about this syndrome. This condition is also known as Bonnevie-Ullrich syndrome, Gonadal dysgenesis, and Monosomy X. The syndrome is a non-inherited chromosomal condition that only occurs in females. It’s cause when there is a complete or partial absence of the second x chromosome. A person with TS has monosomy X, which means that it only has one pair of X chromosome on all or some of it’s cells. When it’s only in some cells is called mosaicism. If a women has this syndrome and it’s a prime mover x-chromosome mosaicism. she is known for having a mosaic turner syndrome. A person with TS is missing one copy of the gene SHOX, which leads to short stature and skeletal abnormalities. This gene is one of the few genes, which can identify the features of TS. A lot of people ask themselves, if they have a child with turners, what is the probability of having another? Well they have found that the probabilities wouldn’t increase over the mother’s age risk for abnormalities on the chromosome that affect every woman.

If your asking yourself how can I know if a have this condition or not? Now a days is very easy to know. Doctors use the karyotyoe blood test to see whether you have all the pairs of chromosomes. Girls usually are diagnosed at birth or around puberty. Sometimes they also do prenatal testing to diagnose it. The main cause of this condition is when there is an error in the splitting of cells.

This means that in anaphase 1 of the meiosis the homologous pair doesn’t separate so it would leave you with two pairs in each side, this is called a nondisjuction and leads to having an abnormal number of chromosomes. So a person with TS goes through nondisjuction and...
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