Chromosomal Abnormalities

What are chromosomal abnormalities?

Chromosomal abnormalities occur when there is a change within the normal chromosome of a human. There are typically 22 pairs of autosomes and two sex chromosomes in humans – a total of 46 chromosomes. A male is described as having a chromosome set of 46 XY, while a woman has a set of 46 XX.

Abnormalities in chromosones often cause mental retardation and are responsible for a number of congenital anomalies. Chromosomal abnormalities can affect the number Cheap Jordan Sale or the structure of the chromosomes; they cheap fake oakleys can also affect the autosomal chromosomes or the sex chromosomes separately. There can be missing chromosomes (deletions) and there can be micro deletions (also known as contiguous gene syndromes).

Here are the various chromosomal abnormalities:

How are chromosomal abnormalities diagnosed?

The physician will perform a variety of tests to confirm the presence of a genetic abnormality. They will examine the patient’s cells to locate the genes. A geneticist who works with these tests all the time will be able to tell whether a set of chromosomes is normal or abnormal. Furthermore, with tests such as FISH it is possible to pinpoint the genetic defect of the chromosomal abnormalities to a certain region within a chromosome, as will be explained in more detail for each of the conditions.

Who does it affect?

Chromosomal abnormalities occur in about 0.4% of all births.

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