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What Is Meant By "chromosome 9 Transition"?

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Posted on Wed, 28 Jan 2015
Question: Hello, I am 21 weeks pregnant, had genetic sonograms, all normal, because of my age,36, I decided to have an amniocentesis performed, both my husband and I were "neg" for all Chromosome defects, I was just told that my baby has a Chromosome 9 transition, not a deletion, what is this and should I terminate my pregnancy? Also, can these tests be wrong, false positive and what chance does my baby have to live a normal life w/ a Chromosome 9 deformation?
doctor
Answered by Dr. Srilatha Myaka (3 hours later)
Brief Answer:
no need for termination of pregnancy

Detailed Answer:
Hello dear,welcome to healthcare magic.I understand your concern.

In my opinion chromosomal 9 transition might not be associated with any major defects.Instead chromosomal 9 deletion is associated with malignancies like myeloma ,bladder cancer and many other conditions.
It is good to know that you and your husband are negative for chromosomal defects.And as you both are normal chance of getting any defect in baby might be rare.
So you need not worry.No need for termination of pregnancy.
The people with chromosomal 9 transition might not have any problem and lead a normal life.
You can discuss further with a geneticist regarding the report.
Hope this satisfies your query.
Feel free to ask any more queries.
Best regards...Dr.srilatha
Above answer was peer-reviewed by : Dr. Yogesh D
doctor
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Follow up: Dr. Srilatha Myaka (38 hours later)
It is now saying on the final report that this is a interstitial deletion of 7.4 Mb on Chromosome 9p24.2-p23, this is much worse than a transition, i have a week to decide to terminate, we are having a different lab do the chromosome testing over just to confirm but this will delay the termination/decision and I will be over 24 weeks, as this is a major decision, can you terminate over 24 weeks, this diagnosis if confirmed is life threatening to this baby, we live in NY? How accurate are these amniocentesis'? Have you ever heard of a person w/a Chromosone 9 deletion such as this one who does not have a major disability/ looks normal?
doctor
Answered by Dr. Srilatha Myaka (9 hours later)
Brief Answer:
Amniocentesis is 95% accurate

Detailed Answer:
Hello dear, I got your query. Iam sorry for your condition.
In my opinion, chromosome 9 has largest autosomal component of all the chromosomes. A few cancer protective genes are present on it. So there might be the risk for bladder cancers, leukaemia, development retardation and other anamolies. So termination might be the option.
But consider the opinion of genetic counselling before going for termination as they will explain you the risk of this to offspring.
Termination of pregnancy can be done over 24 weeks.There are different methods for termination in 2 nd trimester.
Amniocentesis is 95% accurate. A few conditions might not be detected by amniocentesis.
As per the journals of medicine the interstetial deletion is associated with many
structural anomalies. So chances for normalcy is less.
Hope this satisfies your query.
Feel free to ask any more queries.
Good luck....Dr.srilatha
Above answer was peer-reviewed by : Dr. Shanthi.E
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Answered by
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Dr. Srilatha Myaka

OBGYN

Practicing since :2007

Answered : 2422 Questions

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What Is Meant By "chromosome 9 Transition"?

Brief Answer: no need for termination of pregnancy Detailed Answer: Hello dear,welcome to healthcare magic.I understand your concern. In my opinion chromosomal 9 transition might not be associated with any major defects.Instead chromosomal 9 deletion is associated with malignancies like myeloma ,bladder cancer and many other conditions. It is good to know that you and your husband are negative for chromosomal defects.And as you both are normal chance of getting any defect in baby might be rare. So you need not worry.No need for termination of pregnancy. The people with chromosomal 9 transition might not have any problem and lead a normal life. You can discuss further with a geneticist regarding the report. Hope this satisfies your query. Feel free to ask any more queries. Best regards...Dr.srilatha