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Chromosome cariotype & bull; hello healthy

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Definition

What is a chromosome karyotype?

Chromosome cariotypes are used to examine the chromosome structure in a person to determine if there is a genetic disease related to the chromosomes.

A normal chromosome set consists of 22 pairs of autosomes and a pair of sex chromosomes (XY for males and XX for females). Changes in chromosomes can be either congenital or acquired later. Changes in the number, structure, and arrangement and size of chromosomes can cause disorders and various diseases. Common chromosomal abnormalities include duplication, deletion, translocation, inversion, or rearrangement of genes on chromosomes.

When should I undergo a chromosome karyotype?

This test is useful for evaluating and diagnosing congenital defects. As an example:

  • mental retardation
  • hypogonadism
  • Primary amenorrhea
  • genitals that are not clearly male or female
  • acute myeloid leukemia (leukemia)
  • abortion, prenatal diagnosis of serious congenital diseases (especially in the case of pregnant women who are no longer young) such as Turner, Klinefelter, Down syndrome, and other genetic disorders. Your doctor may also order tests to determine the cause of stillbirth or miscarriage.

Precautions & warnings

What should I know before undergoing a chromosome karyotype?

Your doctor can use different parts of the body to take chromosome samples. In particular, peripheral blood draw is very suitable for diagnosing these diseases:

  • acute myeloid leukemia
  • acute myelogenous leukemia
  • chronic myeloid leukemia
  • chronic myelogenous leukemia
  • general leukemia
  • lymphoma

It is important that you know the warnings and precautions before performing this operation. If you have any questions, consult your doctor for further information and instructions.

Process

What should I do before undergoing a chromosome karyotype?

Usually no special preparation is required before the test. You can ask your doctor about the need for the test and its complications. Since the test results can affect your life later, it is better to contact an oncologist in advance regarding genetic problems. They are trained to read the results of chromosome analysis and can provide advice on what disease you have and how it affects you and how it is passed on to your children. Your doctor will help you make the right decision. So it is highly recommended to consult them before this test.

How is the chromosome karyotype?

Samples for analyzing chromosomes can be obtained from a variety of sources. Leukocytes in the peripheral veins are the easiest and most commonly used method for this test. Bone marrow biopsy and surgical samples are also sometimes used. During pregnancy, sample analysis can be obtained by amniocentesis and CVS biological samples. Fetal tissue or products during pregnancy can be analyzed to determine the cause of miscarriage.

Oral mucosal cell analysis is less expensive but does not provide accurate results on other cells when performing this analysis.

What should I do after undergoing a chromosome karyotype?

What needs to be done after this test will depend on the method or sample. In the case of a blood test:

  • The doctor or nurse will draw blood for cholesterol and triglyceride tests. The degree of pain depends on the nurse's abilities, the condition of the veins, and the sensitivity of the pain
  • After the blood draw is complete, you will need a bandage and gently press it on the part of the vein that was injected to stop the bleeding. You can return to your normal activities once the test is over

For sampling at other positions, you have to find a specific point for injection. The test results usually come out after a few months. If your results are abnormal, because it is a genetic disease, it is usually your family that should take this test as well. Also, you should talk to your doctor about medication.

If you have questions related to this test process, please consult your doctor for a better understanding.

Explanation of the Test Results

What do my test results mean?

Normal Results:

  • female: 44 autosomes and 2 X chromosomes; conclusion of chromosomes: 46, XX
  • male: 44 autosomes + 1 X chromosome, 1 Y chromosome; conclusion of chromosomes: 46, XY

Abnormal result: if the result is different from 2 results:

  • birth defects
  • intelligence development acupuncture
  • slow growth
  • delayed puberty
  • infertility
  • hypogonadism
  • primary amenorrhea
  • genitalia is not clear
  • chronic myeloid leukemia (leukemia)
  • tumor neoplasia
  • miscarriage
  • trisomy 21 (trisomy 21) (mental retardation)
  • Tay-Sachs disease
  • sickle cell anemia
  • Turner syndrome
  • Klinefelter syndrome.

Please discuss with your doctor if you have any questions regarding your test results.

Chromosome cariotype & bull; hello healthy
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