Chromosome 17 Abnormalities: What You Need to Know - Obstetrics and Gynecology

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The 17th pair of chromosomes?


I had an amniocentesis, and the doctor said there is an extra segment on chromosome 17.
He keeps telling me not to worry too much and to wait for the next high-level test to make a decision.
If I'm really concerned, I could opt for chromosomal microarray analysis.
I just want to know...
if there is an issue with chromosome 17, does that mean I should terminate the pregnancy? What does having an extra segment mean?

Ya Jun, 30~39 year old female. Ask Date: 2012/06/25

Dr. Liu Yuhong reply Obstetrics and Gynecology


Human cells have a nucleus containing 23 pairs of chromosomes, numbered from pair 1 to pair 23.
Each pair is unique and contains genes; for example, chromosome pair 17 contains approximately 1,200 genes.
An extra segment or a missing segment can indicate the presence of additional or fewer genes, which can lead to certain congenital or hereditary diseases.
As for the concern regarding "an extra segment on chromosome 17," this article cannot provide a definitive answer because chromosome 17 can exhibit various mutations, ranging from the normal satellited chromosome 17 to significant abnormalities such as trisomy 17.
If you are worried about "an extra segment on chromosome 17," it is advisable to consult the physician at the original testing hospital for an explanation regarding the issues with chromosome 17.
Other physicians who have not reviewed the chromosome report cannot adequately address this concern.
If you wish to seek a second opinion from another physician, it is also recommended to prepare a copy of the amniocentesis chromosome report (which can be requested from the original testing hospital).
For more information on chromosomes, you can visit the following links: http://ghr.nlm.nih.gov/handbook/basics/chromosome for general chromosome information, and http://activity.ntsec.gov.tw/lifeworld/gene_c6.html for details on chromosome pairs 1, 2, 17, and 23.
Wishing you good health.

Reply Date: 2012/06/25

More Info


Understanding chromosome abnormalities, particularly those involving chromosome 17, can be a complex and emotionally charged topic for expectant parents. When a doctor mentions that there is an extra segment on chromosome 17, it is essential to understand what this means in terms of potential implications for the fetus and the options available moving forward.

Chromosomes are structures within our cells that contain our DNA, and humans typically have 23 pairs of chromosomes. Each chromosome carries numerous genes that dictate various biological functions and traits. Chromosome 17 is particularly significant because it contains approximately 1,200 genes that are involved in various bodily functions, including those related to growth, development, and the immune response.

When a doctor indicates that there is an "extra segment" on chromosome 17, it could refer to a structural abnormality such as a duplication or a deletion of a segment of the chromosome. This means that there may be additional genetic material present, which can lead to various outcomes depending on the specific genes involved and how they interact with one another. In some cases, these abnormalities can be benign and have no significant impact on health, while in other cases, they may be associated with developmental delays, congenital anomalies, or other health issues.

The term "multisegment" or "extra segment" can be vague without further genetic testing. It is crucial to follow up with more advanced testing, such as chromosomal microarray analysis (CMA) or whole exome sequencing, which can provide a more detailed understanding of the genetic makeup and the specific nature of the abnormality. These tests can help identify whether the extra segment is associated with any known syndromes or conditions.

Regarding the decision about whether to continue the pregnancy, this is a deeply personal choice that should be made after thorough discussions with healthcare providers, including genetic counselors. They can provide insights into the potential risks and outcomes associated with the specific chromosome 17 abnormality identified. It is also important to consider the emotional and psychological aspects of the decision, as well as the support systems available to you.

In terms of the potential for miscarriage or other complications, it is essential to understand that not all chromosome abnormalities lead to adverse outcomes. Many individuals with chromosomal variations lead healthy lives, and some may not even exhibit any symptoms. However, the risk of certain conditions may increase, and this is where genetic counseling becomes invaluable.

In summary, if you have been informed of an abnormality on chromosome 17, it is crucial to seek further testing and consult with specialists who can provide clarity on the implications of this finding. Understanding the nature of the abnormality, the potential risks involved, and the options available to you will empower you to make informed decisions regarding your pregnancy. Remember, you are not alone in this process, and there are resources and support systems available to help you navigate this challenging time.

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