ID:
1123 sp
Sperm Aneuploidies X/Y and 21 chromosomes
Method:
FISH
(Fluorescence In Situ Hybridization)
Full name:
Sperm Aneuploidies X/Y and 21 chromosomes
Sample Type:
Sample quantity:
Sample container:
Sperm
Biomaterial container
The genetic structure of human somatic cells is uniform, except in mosaic cases, and is passed down from parents. Information is transmitted to the next generation by the spermatozoon and egg cell formed through the process of meiosis. Examination of the human chromosome structure is possible with blood analysis. However, sometimes, despite the absence of chromosomal pathology in the body cells, as a result of an error in the meiosis process, an embryo with chromosomal pathology can be formed. As a result, it leads to undetected termination of pregnancy or miscarriage through tests. At this time, the couple consults a doctor. If other analyzes are normal, sperm genetic testing and investigation may be helpful. Aneuploidy is a change in the normal chromosome number. Thus, a person with 46 chromosomes has 47 chromosomes or a spermatozoid with 23 chromosomes has 24 chromosomes is aneuploidy. Studies have shown that abnormal results in sperm analysis are indicators of an increased percentage of sperm aneuploidy. Indications:
Infertility of unknown cause, repeated failed artificial insemination
Recurrent miscarriage or spontaneous abortion in pregnancy
Hypergonadotropic hypogonadism as a result of hormone analysis
Sperm abnormality: Oligo-astheno-terato-azospermia and severe teratospermia in the spermogram analysis. Additionally, cases causing aneuploidy in sperm: Sperm can be added to the FISH test check up in the following cases.
Smoking, age factor
Drinking a lot of alcohol, using a lot of caffeine
When exposed to chemotherapy and radiotherapy
Environmental and occupational exposure: radiation, heavy metals, etc.
Chromosome 21 (Trisomy 21):
Symptoms (Down syndrome):
Severe mental retardation.
Characteristic facial features (squinty eyes, straight nose bridge).
Hypotonia (muscle weakness).
Heart defects.
Respiratory and digestive problems.
Aneuploidy of X/Y sex chromosomes:
XYY syndrome:
Symptoms:
Taller than normal.
Sometimes learning difficulties and late speech.
Normal male development and sexual function.
XXY syndrome (Klinefelter syndrome):
Symptoms:
Tall and long legs.
Late puberty.
Infinity.
Gynecomastia (breast enlargement in men).
Learning difficulties.
XXX syndrome (Triple X syndrome):
Symptoms:
Taller than normal.
Learning difficulties.
Mild mental retardation.
Normal female development and sexual function.
XO syndrome (Turner syndrome):
Symptoms:
Short stature.
Absence of egg cells and infertility as a result.
Shrinkage of the skin of the neck.
Heart and kidney problems.