One of The Focus Foundation’s goals is to detect X and Y chromosomal abnormalities and develop patient-focused outcomes to help combat these disorders. Chromosomal abnormalities can be classified into two different types: structural abnormalities and numerical abnormalities. Learn the differences between the two and what causes these abnormalities below.
Structural Abnormalities
Structural abnormalities occur when the chromosome’s structure has been changed in one or more of several ways.
Deletion – A part of the chromosome is either deleted or missing.
Duplication – A part of the chromosome has been repeated; thus, there is more genetic material than there should be.
Translocation – A part of one chromosome has been transferred to another chromosome. One type of translocation is reciprocal, where parts of two different chromosomes have been exchanged with each other; one type of translocation is Robertsonian, where one entire chromosome has been attached to another chromosome.
Inversion – The genetic material is inverted because a part of the chromosome has broken off from the rest, was reversed, then reattached itself to the rest of the chromosome.
Ring – A part of the chromosome has broke off and become a ring or circle. This can occur with or without the loss of genetic material.
Numerical Abnormalities
Numerical abnormalities occur when a person does not have the right number of chromosomes, which is a pair of them. When a person only has one chromosome, it results in a condition known as monosomy; when a person has more than two chromosomes, the condition is known as trisomy. A condition resulting from trisomy is Down syndrome, which occurs because the person has three of chromosome 21 (instead of the normal two).
Causes
What causes these chromosome abnormalities? An error in cell division or chromosome duplication will result in these abnormalities forming. When there is a cell division error, this results in too few or too many chromosomes occurring in the body’s cells. They usually result from an accident occurring in the sperm or egg. In this case, the abnormality is present in all cells throughout the body. On occasion, however, the abnormality occurs after conception, which can result in some cells having the abnormality and some cells not having it.
Some researchers believe that as women become older, the genetic material inside of their eggs can develop errors; this is why older women giving birth have a greater chance of bearing children with various abnormalities and conditions than children delivered by younger women.
The Focus Foundation Is Determined To Find Solutions To These Abnormalities
If a member of your family is dealing with a condition due to a chromosomal abnormality, we can develop a program to help the person live a higher quality of life, while also researching the condition in hopes of finding a treatment for chromosomal abnormalities. Call us at 1-443-223-7323 or reach us via this form and help us advance the treatment of your family member’s condition today.
