Karyotype: What is it? Importance, Cariotype Test, Genetic Abnormalities and Recommendations

It is a test developed to identify, order, and evaluate the shape, size, and number of chromosomes in the body through a sample of cells.

This evaluation allows us to obtain the structural characteristics of each chromosome, allowing us to detect anomalies that affect each individual’s development, growth, and bodily functions.


The Karyotypes can detect Down Syndrome, genetic disorders, or specific defects in the fetus’s gestation process.

The analysis of Karyotypes in adults is widespread to determine using the chromosomes if they can transmit genetic disorders to the fetus in the process of fertilization.

It also determines what prevents a woman from becoming pregnant or if her body performs spontaneous abortions.

Karyotypes can help doctors determine the treatments for some types of cancer.

Cariotype test

It can be done with almost any cell in the body; the usual procedure is using a blood sample; if the evaluation is done in pregnancy to determine the conditions of the fetus, the model is extracted from the amniotic fluid or the placenta.


To determine if the chromosome structure is typical, there must be 46 grouped in 22 compatible pairs and a sexual pair (XY for men and XX for women).

If the structure is abnormal, there are more or less than 46 chromosomes, or the shape, size, and design can not be grouped by being different from each other, or even a pair can be broken or separated incorrectly.

Genetic abnormalities

Thanks to the karyotype test, diseases or genetic or hereditary anomalies can be detected in the fetus before birth, such as:

  • Klinefelter syndrome: caused by an additional X chromosome (XXY), affects only males, and generates infertility, gynecomastia, and other genetic malformations.
  • Turner syndrome: arises when only one chromosome (X) is present, a genetic disorder that only women suffer from. It affects the development of the body, is short, infertile, and may suffer from kidney problems, and high blood pressure, among others.
  • The trisomy of chromosome 21 produces down Syndrome, the most common Syndrome. This genetic alteration makes congenital intellectual or cognitive disability and presents distinctive characteristics.
  • Patau syndrome: it is caused by the duplication of chromosome 13; it is characterized by affecting the development of the fetus in the process of pregnancy, causing malformations in the head, the nervous system, the abdomen, and the extremities, usually the baby does not live more than three months
  • Edwards syndrome: it is presented by the trisomy of chromosome 18. This unusual genetic deformation affects the development of the skull, causing facial abnormalities such as cleft lips and palate, short neck, low deployment ears, and eye defects, among others.
  • Prader-Willi syndrome: one suffers from a genetic change in chromosome 15, eliminating the paternal genes. This condition generates low levels of sex hormones, decreased muscle strength, constant hunger, short stature, and undeveloped sexual organisms.
  • Angelman syndrome: is suffered because of a genetic change in chromosome 15, eliminating maternal genes. This genetic disorder brings food problems, short stature, little speech, and a tiny head compared to the body.


Suppose you want to perform a Karyotype test. In that case, you should consult a trusted doctor to clarify any questions and explain why you want to undergo this chromosomal evaluation.

It can be done in two ways:

In a clinical laboratory, they will extract the blood to be evaluated by a vein in the arm, this sample will be placed in a microscope, and the chromosomes will be grouped until they are normal or not.

They can also sample a fetus to assess whether it is likely to be born with a genetic malformation through amniocentesis and a chorionic villus sampling.

Pregnant women must have their check-ups rigorously, and if the attending physician suspects that the fetus may be developing a genetic malformation, they will immediately undergo an amniocentesis test.

This will help diagnose the Syndrome or disease early.