Genetics
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- Well, Warsaw Breakage Syndrome is an autosomal recessive disorder from a mutation of the DDX11 gene, which is located on the p arm of the 12th chromosome...
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- This model of a chromosome is not to scale, I tried my best
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- P-arm
- Oh doctor! we were just told our child has Warsaw Breakage Syndrome. what does this mean?
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- DDX11 gene
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- Chromosome 12
- Q-arm
- It causes intellectual abnormalities as well as physical growth abnormalities such as a smaller head and shorter height. Additionally, there are facial traits associated with people who have this disorder including smaller forehead and lower jaw, a shorter nose, more prominent cheeks and a flatter area between the nose and mouth. Along with this, it is common for people with Warsaw Breakage to have hearing loss because of nerve damage and heart malformations. This is all because this disorder disrupts the
- production of a helicase enzyme called ChlR1. This is an enzyme that opens up sections of DNA, helps repair errors in DNA, and ensures proper chromosome separation. This disorder lessens or completely stops this enzyme from being produced, which leads to breaks and damage to the DNA. This is why we see some of these abnormalities in the person.
- You two must both have a heterozygous genotype for this disorder. Look here...
- But neither of us have this syndrome, so how did our little Michael get it?
- There are 3 possibilities for your genotypes. Here is if both of you are homozygous dominant. As you can see, if these were your genotypes, there would be no way for you to have an affected child. So this combo's off the table.
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- Another possibility would be if one of you was heterozygous and the other was homozygous dominant. Here, again we see that the options for offspring are either homozygous dominant or heterozygous, so this option is also off the table.
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- Meiosis
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- The final possibility is that both of you are heterozygous. As you can see, this is the only possibility that has a chance to yield a child with this disorder is this one, meaning this is your and your husbands genotype.
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