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chromosomal abnormality

chromosomal abnormality

I just found out through amnio that my pregnancy has a balanced translocation of chromosome 14 and 15.  Does anybody know what that may mean?  Are there other healthy individuals with this?
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Chromosomes are structures present in every cell, and they usually occur in a sequential numbered order, normally arranged in pairs: a pair of chromosome 1s, a pair of chromsome 2s, etc.  A balanced translocation refers to a situation where a piece of one chromosome re-arranged and attached itself to another number chromosome  (in your case, a piece of 14 and a piece of 15 switched places).  During the process of normal cell division it sometimes happens that pieces of one chromosome attaches to a different numbered chromosome rather than the one like itself.  If the pieces manage to re-attach without losing any parts, it's a balanced translocation.  (Sometimes, if the pieces lose parts, the re-arrangement becomes unbalanced.)

There are many individuals who have balanced translocations and are completely healthy.  Very often, balanced translocations are inherited from parents -- while it's possible that this balanced translocation is a new re-arrangement that happened during the pregnancy, it's also possible that the amnio shows it because you or your partner have this 14/15 balanced translocation.  

You and your partner should have chromosome testing to see if either one of you have the translocation; if so, then it would be very reassuring that the baby would be much like the parent that has it!  If it turns out that neither you nor the father have this translocation, your doctor may be able to order an additional test on the amnio cells called Microarray to check and make sure that the translocation is balanced, and that small pieces haven't been lost in the re-arrangement.

Best wishes to you. ~eureka
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Hello Mariaz2215,

I wanted to say Eureka has explained this wonderfully.  I wanted to add a few things for you to also note and hopefully help you to understand.
The important thing is it is impossible from the Amniocentesis to know whether or not your baby with have any serious health complications, but on the positive side, most people who have balanced translocations actually most of the time are not even aware that they indeed have one until they are subjected to a chromosome analysis or Karyotype for some reason such as pregnancy etc.  (Maybe for example in a female who has had several miscarriages, her doctor may refer her to a geneticists to have her karyotype done to see if there may be a genetic reason for her losses.)  Otherwise, many healthy people go through their entire lives not knowing they have a balanced translocation.  
Also, and that in genetics, it is important to note for further down the road for your baby, her or she will need to know about her translocation if he or she plans to have children down the road.  There is a 25% chance that the translocation can be passed on just as Eureka mentioned that this translocation may have come from either yourself or your partner.  Getting both yourself and your partner tested would be beneficial for you should you also consider having more children.  This will allow you to have proper guidance with respect to your risk factors and odds with the possibility of having other baby's with a translocation (as I mentioned if either of you have the same translocation, the usual assessed risk is approximately 25% to pass it on, but if both of you had this translocation - a rare situation, the odds would need to be re-evaluated accordingly.)

I have a few really good sites that I like to pass along that helps to explain translocations and also the specific one that you have mentioned.

First here is an illustration of a balanced translocatoin for your reference:  http://ghr.nlm.nih.gov/handbook/illustrations/balancedtranslocation

This is the definition of a balanced translocation for your reference:  http://generalhealthtopics.com/balanced-translocation-957.html

This is a reference to Chromosome 14 translocations with other chromosomes (and the subsequent possible effects):
http://ghr.nlm.nih.gov/chromosome/14

And this is a reference to Chromosome 15 specifically so that you understand what this chromosome is responsible for :  http://ghr.nlm.nih.gov/chromosome/15

And the type of translocation that your baby has is called a Robersonian translocation -
which is defined as, "Robertsonian translocation: A type of translocation exclusive to
the acrocentric chromosomes (13, 14, 15, 21 and 22) in which two of these chromosomes join at or near their centromeres.  This is effectively a fusion between two whole chromosomes.

Here is a reference regarding Robersonian translocation:  http://en.wikipedia.org/wiki/Robertsonian_translocation

The reason this translocation is one of the more common ones is because any other translocation not involving the following specific chromosomes - 13, 14, 15, 21, or 22 is not considered viable.  The translocations involving these chromosomes are completely viable, providing they are balanced.

I hope that this additionally helps you, and if you need any thing at all regarding information about translocations, and the genetics testing etc, please feel free to contact me.  I am a designated genetics guide (from our local hospital's genetics department) for parents & families who receive genetic diagnoses.  I am also the mother of a son born with Trisomy 21 (Down syndrome).  So please do not hesitate to send me a direct message at any time.  I am here to help.  I know how frustrating this can be, especially if no one has taken the time to counsel you on the results of your baby's karyotype (genetic analysis).

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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