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Dr. Andrew Rynne
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Dr. Andrew Rynne

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What Does Chromosome 12 Conversion In Amniocentesis Mean?

Hello, My daughter is pregnant and due May 11. The Dr. called today and told her that her amniocentesis showed a chromosome 12 conversion.. What does that mean, what are we possibly looking at when the baby is born?
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Wed, 19 Mar 2014
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OBGYN,  's  Response
Hello and welcome,
I am Dr Nilajkumar a consultant gynecologist and I will be helping you in your queries.

Please check to see if it was conversion or inversion. Inversion is the most likely term. It is a defect in the chromosomes which are the basic units defining our genetic makeup.
We have 23 pairs of chromosomes in each cell of which 22 are for determining what our body will be like [autosomes] and 2 determine if we will be male or female [sex chromosomes].
In inversion, one of the chromosomes [ in your case an autosome] gets linked to itself in a reverse order. Example: the part that was to form the tail forms the head and so on. The total number of genes that regulate our metabolism and our body are usually not lost. These defects are usually well tolerated as genetic material is not lost but sometimes may produce abnormalities depending upon the site where it occurred and the gene present on that site.

Unfortunately it is difficult to predict the effect. Most likely it will be mild as it is only an inversion.

Hope this helped.
Thanks for using HCM.
Have a good day.
Dr Nilajkumar Bagde     
Consultant Obstetrics and Gynecology
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What Does Chromosome 12 Conversion In Amniocentesis Mean?

Hello and welcome, I am Dr Nilajkumar a consultant gynecologist and I will be helping you in your queries. Please check to see if it was conversion or inversion. Inversion is the most likely term. It is a defect in the chromosomes which are the basic units defining our genetic makeup. We have 23 pairs of chromosomes in each cell of which 22 are for determining what our body will be like [autosomes] and 2 determine if we will be male or female [sex chromosomes]. In inversion, one of the chromosomes [ in your case an autosome] gets linked to itself in a reverse order. Example: the part that was to form the tail forms the head and so on. The total number of genes that regulate our metabolism and our body are usually not lost. These defects are usually well tolerated as genetic material is not lost but sometimes may produce abnormalities depending upon the site where it occurred and the gene present on that site. Unfortunately it is difficult to predict the effect. Most likely it will be mild as it is only an inversion. Hope this helped. Thanks for using HCM. Have a good day. Dr Nilajkumar Bagde Consultant Obstetrics and Gynecology