Abnormalities of chromosomes 13 and 14?
Hello Dr.
Chen: My amniocentesis report shows a result of 45.xx.der(13;14)(q10;q10), indicating that one of the chromosomes from chromosome 14 has attached to chromosome 13.
I would like to ask if this means my child is healthy? Do you recommend that the parents undergo blood tests to determine if this is hereditary or a mutation in the baby? Should we perform a chromosomal microarray analysis on the amniotic fluid? Thank you for your assistance, Dr.
Chen! Thank you! I appreciate your hard work!
Zoe, 30~39 year old female. Ask Date: 2016/12/05
Dr. Chen Ming reply Rare Disease
In principle, it is balanced and there are no major issues.
However, it is advisable for both partners to undergo chromosomal testing and consider amniocentesis with chromosomal microarray analysis.
Please come to the clinic for further discussion.
Reply Date: 2016/12/05
More Info
Understanding chromosomal abnormalities can be quite complex, especially when it comes to the implications for your child's health. In your case, the report indicates a chromosomal rearrangement involving chromosomes 13 and 14, specifically a derivative chromosome (der(13;14)). This means that part of chromosome 14 has attached to chromosome 13, which can potentially lead to various health implications depending on the genes involved in the rearrangement.
Firstly, it is important to understand that chromosomal abnormalities can be classified into two categories: balanced and unbalanced. A balanced rearrangement means that there is no loss or gain of genetic material, which typically does not lead to health issues. However, an unbalanced rearrangement can result in a gain or loss of genetic material, which may lead to developmental delays, congenital anomalies, or other health problems.
In your case, the notation "45.xx.der(13;14)(q10;q10)" suggests that there is a derivative chromosome, which could imply a potential risk for unbalanced genetic material. The specific health implications for your child would depend on whether this rearrangement is balanced or unbalanced and which genes are affected. It is crucial to consult with a genetic counselor or a specialist in genetics who can provide a more detailed interpretation of the results and their implications for your child's health.
Regarding your question about whether the parents should undergo blood tests to determine if this is a hereditary condition, it is often recommended. Parental testing can help identify whether one or both parents carry the chromosomal rearrangement, which can provide insight into the risk of recurrence in future pregnancies. If one parent has a balanced rearrangement, there may be a risk of having an unbalanced chromosome in the offspring, which could lead to health issues.
As for whether you should pursue further testing, such as amniocentesis or chromosomal microarray analysis, this decision should be made in consultation with your healthcare provider. A chromosomal microarray can provide a more detailed analysis of the chromosomes and may help identify any additional genetic abnormalities that could affect your child's health.
In summary, while the presence of a chromosomal rearrangement can be concerning, the actual health implications for your child depend on several factors, including whether the rearrangement is balanced or unbalanced and the specific genes involved. It is essential to work closely with a genetic counselor or specialist who can guide you through the next steps, including potential testing for both parents and further evaluations for your child. This collaborative approach will help ensure that you have the most accurate information and support as you navigate this situation.
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