Everything You Should Understand About Chromosomal Abnormalities

by | Mar 5, 2024 | Healthcare

Latest Articles



Chromosomal abnormalities occur due to abnormal arrangement of chromosomes or changes in one or multiple chromosomes. These abnormalities cause various conditions. Find out below the types of chromosomal abnormalities and conditions that arise from them.

Types of Chromosomal Abnormalities

Aneuploidy: Aneuploidy occurs when there is a gain or loss of chromosomes caused by abnormal segregation of genes when cells divide. The loss or gain of chromosomes can cause monosomy, tetrasomy, or trisomy.

Polyploidy: Polyploidy occurs when the entire set of chromosomes increases as a result of failed cytokinesis. Polyploidy is common in plants.

Chromosomes exist in pairs. When there is an extra chromosome in a pair, the condition is called trisomy. When there is a missing chromosome in the pair, the condition is called monosomy.

Disorders that Arise from Chromosomal Abnormalities

Down Syndrome: This disorder is an example of trisomy. It occurs when there is an extra copy of chromosome 21. Symptoms include retarded mental and physical development, broad palm, partially open mouth and furrowed tongue, and a small, round head.

Klinefelter Syndrome: As Klinefelter syndrome specialists will tell you, this genetic disorder is caused by an additional X chromosome in males. This means that people with this disorder have 47 chromosomes instead of 46. People with this disorder have a masculine physique and some traces of feminine development. For instance, they may develop breasts.

Turner syndrome: This disorder occurs when females lack one X chromosome. These females lack secondary sexual characteristics.

You can consult the professionals at The Focus Foundation if you are looking for treatment for chromosomal abnormalities. The organization has multiple specialists, including Klinefelter syndrome specialists, who use various approaches to address chromosomal abnormalities. Visit thefocusfoundation.org to learn more about their treatments for chromosomal abnormalities.

Similar Articles