Karyotype is a chromosome test on a cell sample to identify genetic disorders that cause malformations. The K aryotype test will identify and evaluate the size, shape and number of chromosomes in a body cell sample. Excessive or missing chromosomes or an abnormal position of the chromosome segment can cause problems with a person’s growth and development.
This test says:
– Number of chromosomes
– Changes in chromosome structure
A karyotype is a test to determine and evaluate the size, shape and number of chromosomes in a body cell sample.
Perform the test
A karyotype is done on a blood sample, bone marrow, amniotic fluid, placenta or human tissue.
This test can be done on samples of blood, bone marrow, amniotic fluid, placenta or human organs.
For amniotic fluid test, amniocentesis is needed.
A bone marrow sample is taken through a biopsy.
The samples are cultured in a special medium or dish in a laboratory. After appropriate time, cells will be harvested, cyanotic and stained. The size, shape, and number of chromosomes in a sample of cells will be observed under a microscope and imaged into a set of chromosomes. Then abnormalities in the number and structure of chromosomes will be detected.
Why do chromosome testing?
Check couples who have a history of multiple miscarriage or who have genetic abnormalities.
A bone marrow sample or blood sample may be taken to identify the Philadelphia chromosome.
Samples of amniotic fluid and placenta to check for fetal chromosomal abnormalities.
Find out if a parent’s chromosomes change when passed to their children.
There are chromosomes that make it difficult for a woman to get pregnant or can cause a miscarriage.
Find out if there are chromosomal defects in the fetus. A karotype test may also be done to find out if a chromosome problem is the cause of a stillbirth.
Identify the causes of birth defects in children.
Determine the appropriate treatment for certain types of cancer.
Determining the sex of a person by examining the presence of the Y chromosome. This can be done when the sex of the newborn has not been clearly defined (in the case of any abnormalities). usually located on sex chromosomes)
Karyotype test results
Karyotype testing results are usually available within 1-2 weeks.
Normal chromosome set :
– Female: 44 normal chromosomes and 2 sex chromosomes (XX), symbols: 46, XX
– Male: 44 normal chromosomes and 2 sex chromosomes (XY), symbols: 46, XY
Male chromosome set, normal: 46, XY
Common chromosomal abnormalities:
Down 47, XX (XY), + 21 or trisomy 21 syndrome: This is a disorder of an extra chromosome number 21 (trisomy 21 or Trisomy 21), most commonly in children living with a frequency of 1 / 700-1 / 1000. People with Down syndrome often exhibit mental retardation, intellect, low intelligence, and almost no learning ability. More than 50% of people are ill with congenital malformations such as: cardiovascular, digestive …
Chromosome set 47, XX, + 21 and images of babies with Down syndrome
Klinefelter syndrome 47, XXY: an excess of X sex chromosomes in men. This is the most common sex chromosome disorder with a frequency of 1/1000 male. Patients often have small testicles and infertility.
Philadelphia chromosome: the Philadelphia chromosome is a specific chromosomal abnormality associated with the CML (Chronic Myelogenous Leukemia) of acute leukemia. This is the result of a transition between chromosomes 9 and 22, t (9; 22) (q34; q11). 95% of CML patients have this abnormality. Edward’s syndrome, 47, XX (XY), + 18 or trisomy 18 : is a severe chromosomal disorder caused by an extra chromosome 18, or occurs with the frequency of 1/3000 live births. Sick children usually live no more than 1 year old and often have birth defects of the heart, kidneys and other internal organs.
Turner syndrome (45, XO or 46, XO / 46, XX): chromosomal abnormality due to lack of a sex chromosome X with a frequency of 1/2500 female. Common manifestations: dwarf, large neck, low hair, low ears, uterus and small ovaries, amenorrhea, infertility …
Patau’s syndrome, 47, XX (XY), + 13 or trisomy 13: is a severe chromosomal abnormality due to an extra chromosome 13, which accounts for 1 in 10,000 live births. Fetal syndrome Patau often miscarriage, stillbirth or premature death after birth and accompanied with birth defects: neurology (small brain, single ventricle …), heart defects, cleft palate, multi-finger …
Structural disorders: paragraph transition, paragraph break, loop back, reverse …
In some cases, chromosomal abnormalities may occur as a result of cell culture in a laboratory, so a check should be made to diagnose anomalies.
Assign in case
- Birth defects
- Delayed physical and intellectual development
- Repeated abortion
- Primary amenorrhea
- Father / Mother has children with chromosomal abnormalities
- Previous exposure to X-rays, carcinogens …
- Cases where gender determination is required
- Suspected cases of chromosomal abnormalities.