ID:
F122
Down, Turner, Klinefelter, Triple X, Edwards, Patau syndromes
Method:
FISH
(Fluorescence In Sıtu Hybrıdızatıon)
Full name:
Down, Turner, Klinefelter, Triple X, Edwards, Patau syndromes (blood)
Sample Type:
Sample quantity:
Sample container:
Blood
5 ml
A tube with a purple cap
Down syndrome (T21) - Down is a hereditary disease. This syndrome is found mainly in the children of women who became pregnant after the age of 35 and have inherited chromosomal changes. Down syndrome is the formation of trisomy due to an abnormality in the 21st pair of chromosomes. Similar signs of children born with Down syndrome - short stature, small and round skull, flattened in the face area, cheeks slightly exposed against the flattened background of the face. The eyes are elongated and small, the slits are narrow, the skin is folded in the corners of the eyes, and the tongue is large.
Turner syndrome (45X) is a chromosomal abnormality common in girls. These are errors in cell divisions during early fetal development. In mosaic cases, 2 copies of the X chromosome are present in some cells, while others have a false copy. Girls with Turner syndrome have one X chromosome. The most typical symptoms are wide neck, flat nails, short hands and feet, developmental delay, menstrual disorders, etc.
Klinefelter (47XXY) - A chromosomal abnormality with 47XXY instead of the normal 46XY in boys. This condition affects overall development and may not have clinical symptoms until adulthood. Typical symptoms include speech delay in children, weak bone and muscle system, infertility.
Edwards syndrome (T18) is characterized by numerous congenital anomalies with the presence of an additional chromosome on the 18th chromosome. Children with Edwards syndrome often have micrognathia, microcephaly, cardiac and fetal anomalies, and intrauterine growth retardation.
Patau syndrome (T13) - Trisomy 13 - is a chromosomal abnormality with an incidence of 1/15,000. Abnormalities in the cardiovascular system, digestive system and other systems are more frequent.
Down syndrome is caused by having three copies of chromosome 21 (trisomy).
Symptoms:
Facial features: Flat face, flat nose bridge, almond shaped eyes, small ears.
Mental retardation: Mild to moderate mental retardation.
Muscle tone: Hypotonia (decreased muscle tone).
Growth: Short stature and stunted growth.
Heart problems: Congenital heart defects (40-60% of cases).
Health problems: Vision and hearing problems, thyroid problems, immune system weakness.
Chronic diseases: High risk of Alzheimer's disease as you age.
Turner syndrome is caused by the complete or partial absence of one X chromosome in females.
Symptoms:
Stature: Short stature.
Reproductive: Ovarian dysfunction, infertility.
Physical features: Pterygium colli (folding of skin) on the neck, broad chest.
Heart and kidney problems: Heart defects, kidney abnormalities.
Other: Abnormally prominent ears, receding hairline, lymphedema (swelling in hands and feet).
Intelligence: Normal intelligence in most cases, but may have problems with spatial and mathematical thinking.
Klinefelter syndrome is caused by the presence of an extra X chromosome in males (XXY).
Symptoms:
Reproductive: Infertility, decreased testosterone levels.
Growth: Tall, with long arms and legs.
Intelligence: Mild learning difficulties, delay in language and speech development.
Social: Difficulties in social development, emotional problems.
Triple X syndrome is caused by the presence of an extra X chromosome in females.
Symptoms:
Growth: Tall.
Intelligence: Normal intelligence in most cases, but learning difficulties and delays may be present.
Physical Characteristics: In most cases, there are no physical abnormalities.
Social: Sometimes social and emotional problems.
Edwards syndrome is caused by having three copies of chromosome 18 (trisomy).
Symptoms:
Growth: Low birth weight and stunting.
Physical features: Small jaw (micrognathia), low-set ears, bent fingers and toes, omphalocele (congenital defect in the abdominal wall).
Heart and kidney problems: Congenital heart defects, kidney abnormalities.
Intelligence: Severe mental retardation.
Health problems: High risk of death, frequent infections and other serious health problems in the first months of life.
Patau syndrome is caused by the presence of three copies (trisomy) of chromosome 13.
Symptoms:
Growth: Low birth weight and growth retardation.
Physical features: Severe facial and body deformities, cleft lip or cleft palate, polydactyly (extra fingers or toes), microcephaly (small head).
Heart and kidney problems: Congenital heart defects, kidney abnormalities.
Intelligence: Severe mental retardation.
Health problems: High risk of death in the first months of life, serious health problems.