ID:
1088
Triscore (X/Y/21) Down, Turner, Klinefelter syndromes

Method:
FISH
(Fluorescence In Sıtu Hybrıdızatıon)
Full name:
Triscore (X/Y/21) Down,Turner,Klinefelter
Sample Type:
Sample quantity:
Sample container:
Blood
5 ml
A tube with a purple cap
The Triscore test is among the prenatal genetic tests and is used to detect certain chromosomal abnormalities in the fetus. This test is especially designed to identify abnormalities such as Trisomy 21 (Down syndrome), sex chromosome aneuploidies (Klinefelter syndrome, Turner syndrome, etc.). The Triscore test belongs to the category of non-invasive prenatal tests (NIPT) and is performed by analyzing the DNA of the fetus from the mother's blood sample during pregnancy.
Triscore Test and the Anomalies It Detects
Trisomy 21 (Down syndrome): Description: Trisomy 21 is caused by the presence of an extra 21st chromosome in the fetal cells. Normally, people have two copies of each chromosome, but people with Trisomy 21 have three copies of chromosome 21.
Symptoms: Mental retardation.
Characteristic facial features (squinty eyes, straight nose bridge).
Hypotonia (muscle weakness).
Heart defects and other congenital anomalies.
Respiratory and digestive problems.Sex Chromosome Aneuploidies:
Klinefelter syndrome (XXY): Description: Klinefelter syndrome is caused by the presence of an extra X chromosome in males (47,XXY).
Symptoms: Tall height and long legs.
Late puberty.
Infinity.
Gynecomastia (breast enlargement in men).
Learning difficulties.
Turner syndrome (XO): Description: Turner syndrome is caused by the absence of one sex chromosome in females (45,XO).
Symptoms: Short stature.
Absence of egg cells and infertility as a result.
Shrinkage of the skin of the neck.
Heart and kidney problems.
Abnormal developmental features (e.g. lower arms).
XXX syndrome (Triple X syndrome): Description: Triple X syndrome is caused by the presence of an extra X chromosome in women (47,XXX).
Symptoms: Taller than normal.
Learning difficulties.
Mild mental retardation.
Normal female development and sexual function.
XYY syndrome (XYY): Description: XYY syndrome is caused by the presence of an extra Y chromosome in males (47,XYY).
Symptoms: Taller than normal.
Sometimes learning difficulties and late speech.
Normal male development and sexual function.
The Triscore test is among the prenatal genetic tests and is used to detect certain chromosomal abnormalities in the fetus. This test is especially designed to identify abnormalities such as Trisomy 21 (Down syndrome), sex chromosome aneuploidies (Klinefelter syndrome, Turner syndrome, etc.). The Triscore test belongs to the category of non-invasive prenatal tests (NIPT) and is performed by analyzing the DNA of the fetus from the mother's blood sample during pregnancy.
The Triscore Test and the Anomalies It Detects
Trisomy 21 (Down syndrome):
Symptoms:
Mental retardation.
Characteristic facial features (squinty eyes, straight nose bridge).
Hypotonia (muscle weakness).
Heart defects and other congenital anomalies.
Respiratory and digestive problems.
Sex Chromosome Aneuploidies:
Klinefelter syndrome (XXY):
Symptoms:
Tall and long legs.
Late puberty.
Infinity.
Gynecomastia (breast enlargement in men).
Learning difficulties.
Turner syndrome (XO):
Symptoms:
Short stature.
Absence of egg cells and infertility as a result.
Shrinkage of the skin of the neck.
Heart and kidney problems.
Abnormal developmental features (e.g., lower arms).
XXX syndrome (Triple X syndrome):
Symptoms:
Taller than normal.
Learning difficulties.
Mild mental retardation.
Normal female development and sexual function.
XYY syndrome (XYY):
Symptoms:
Taller than normal.
Sometimes learning difficulties and late speech.
Normal male development and sexual function.