Turner Syndrome

tors for Turner syndrome ar not well known. Genetic mosaicism (46XX/45XO) is or so often implicated, alongside nondisjunction (45XO) and partial monosomy (46XX). Nondisjunctions increase with maternal age, much(prenominal) as for Down syndrome, but that effect is not discharge for Turner syndrome. It is also unknown if thither is a contractable predisposition present that causes the antidromicity, though most researchers and doctors treating Turners women agree that this is extremely unlikely. In 75% of cases inactivated X chromosome is paternal origin. There is before long no known cause for Turner syndrome, though there are several theories surrounding the subject. The only solid feature that is known today is that during conception part or all(a) of the second sex chromosome is not transferred to the fetus.[8] In other words, these females do not have Barr bodies, which are those X chromosomes inactivated by the cell.
[edit]Diagnosis

[edit]Prenatal

45,X karyotype, show an unpaired X at the lower right
Turner syndrome whitethorn be diagnosed by amniocentesis or chorionic villus taste during pregnancy.
Often, fetuses with Turner syndrome can be identified by abnormal ultrasound findings (i.e.



heart defect, kidney abnormality, cystic hygroma, ascites). In a canvas of 19 European registries, 67.2% of prenatally diagnosed cases of Turner Syndrome were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies.[9]
An change magnitude risk of Turner Syndrome may also be indicated by abnormal triple or quadruple maternal blood serum screen. The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely those with mosaic karyotypes are less(prenominal) likely to have associated ultrasound abnormalities.[10]If you want to get a full essay, order it on our website: Orderessay



If you want to get a full essay, wisit our page: write my essay .