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Comprehensive Information on Chromosome Abnormality Syndrome

Submitted on March 27, 2012

Chromosomes are the fundamental building blocks of DNA or what we call genes. Analysis of these chromosomes can help in proactively identifying any abnormality in the chromosome of a baby prior to birth. They also provide an insight into the reason for miscarriages and infertility.

The analysis of chromosomes is done by a technique known as karyotyping. Karyotyping involves the analysis of the shape, size, and structure of a chromosome. Under normal circumstances, the human body should contain 46 chromosomes: 44 of these are called autosomes and the remaining 2 are sex chromosomes. Sex chromosomes can help in identifying the sex of an unborn child.

Chromosome analysis during pregnancy is possible by doing an analysis of the amniotic fluid or from a biopsy sample of the placenta.

Conditions of Chromosome Abnormalities

Trisomy is one of the most common chromosome disorders that is found in babies, and it occurs when there are three copies of a chromosome instead of two. They can be responsible for conditions such as Down’s syndrome, Edward’s syndrome, Patau syndrome, chronic lymphocytic leukemia, Warkany syndrome, Kilnefelter’s syndrome, and Turner’s syndrome. Most of these disorders can be proactively identified when the baby is in the womb, by using a chromosome analysis.

Down syndrome

Down syndrome occurs due to additional chromosomes. Individuals who have Down syndrome demonstrate slowed down physical and mental development. Edward syndrome. Edward syndrome occurs due to an additional eighteenth chromosome, and can be the cause for conditions like kidney malformation, heart defects, and mental retardation.

Patau syndrome

Patau syndrome is caused due to an extra thirteenth chromosome and is very rare as compared to the Down and Edward syndromes. This can cause sever neurological disorders and heart diseases. Infants with Patau syndrome are also found to have extra toes, deformed feet, and other facial defects.

Chronic lymphocytic leukemia

This form of leukemia is also called Philadelphia syndrome and is caused when the genetic contents of two chromosomes get interchanged. This causes leukemia to develop within the bone marrow.

Warkany syndrome

This syndrome occurs due to an additional eighth chromosome. Symptoms of the Warkany syndrome include small jaws, expressionless faces, and large ears and foreheads.

Kilnefelter’s syndrome

This is mainly caused in men, and the symptoms include an underdeveloped testicle and infertility. This is caused to due to an additional sex chromosome in men.

Turner’s syndrome

This can lead to the lack of growth in girls and can also cause the ovaries to remain underdeveloped. This condition occurs when one of the two sex chromosomes are missing.

Maternal age also has been known to affect chromosomal abnormalities in babies. The risk of a chromosomal abnormality is known to increase with maternal age.

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