Karyotip analizi ile neler tespit edilir?

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Karyotip analizi ile neler tespit edilir?​

Karyotip, deri ve kan hücrelerinden, gebelik sırasında (prenatal tanı) bebeğe ait hücrelerden, tümör ve kemik iliği hücrelerinden özel metotlarla elde edilir ve özel boyalarla boyanır. Bu yöntemlerle bazı kromozom hastalıklarının teşhisi yapılır. Normal karyotip erkekte 44 + XY , kadında 44 + XX’tir.

Kromozom analizi neden yapılır?​

Kromozom testi, kromozom anomaliliklerini tespit etmek için kullanılır. Bu nedenle test genetik hastalıkların, doğuştan gelen bozuklukların ve kan veya lenf sistemi ile ilgili bazı hastalıkların teşhis edilmesi için kullanılabilir.
What are karyotype tests and how do they work?
What Are Karyotype Tests? Karyotype tests take a close look at the chromosomes inside your cells to see if anything about them is unusual. They’re often done during pregnancy to spot problems with the baby. This type of procedure is also referred to as genetic or chromosome testing, or cytogenetic analysis.
What is the most common karyotype for females?
The most common karyotypes for females contain two X chromosomes and are denoted 46,XX; males usually have both an X and a Y chromosome denoted 46,XY. Approximately 1.7% percent of humans are intersex, sometimes due to variations in sex chromosomes. Some variations in karyotype, whether to autosomes or allosomes, cause developmental abnormalities .

How long does it take to get karyotype results back?​

You may need to wait a few weeks for the result of your karyotype test, though it could take more or less time. Ask your healthcare provider about when you can expect your results. What do karyotype test results mean? Abnormal karyotype test results could mean that you or your baby have unusual chromosomes.

What types of chromosomal abnormalities can be detected by karyotypes?​

Karyotypes can be used to screen for and confirm chromosomal abnormalities such as Down’s syndrome and Cat Eye Syndrome, and there are several different types of abnormalities which may be detected. Chromosome translocations in which a part of one chromosome is attached to another chromosome (and vice versa in balanced translocations.)