Extra Chromosomes
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Hi everyone,? This has been an interesting discussion with some great information shared.? While I do not agree with all Dora?said, she did make a good point that these chromosome disorders generally carry an extra risk of many health disorders including retardation and infertility (XYY does not carry an?increased?risk of infertility according to the study this?article is based?on).? As Arthur points out, all of the people?with this disorder do not have these?issues or in recognizable?amounts to most people or even all the issues Dora mentioned (which I have not personally seen or looked for papers on). As the guardian article points out, most people?with the disorder do not even realize they have it.? Helen thank you for sharing the medline article that discusses common repercussions?for having XXY or XYY karyotypes as well as other?sex chromsome abnormalities that people may come across.? The original?article the Guardian article was based on was published in Genetics in Medicine on the 9th of June 2022 was actually looking to find if the rates of health risks associated with XXY and XYY syndrome?previously reported were correct by looking in a population for people?who may not have known they?had these genetic abnormalities and then looking at their medical records.? So they took?people only of?a?specific?ethnicity in a specific?place (the UK Biobank) and did DNA tests to?find out if they?had karyotype?abnormalities?(XXY -also known as Klienfelter's syndrome, or XYY). They found that only 23% of the people they found with XXY and 0.7% of the people they found with XYY karyotype actually knew they had these genetic conditions. This is interesting?because that?means that this abnormal?karyotype goes largely undiagnosed (77% of the time for one karyotype and over 99% of the time for the other). A lot of people with health issues related to these conditions could get?better care if they had known the?reason why they struggled with?infertility,?pulmonary?embolisms, venous?thrombosis etc...or at least their increased risk of these disorders so they could participate in regular preventative?care. But it also means (like Arthur pointed out) that they do not always fit the?picture the?doctors are looking?for.?? The study the gaurdian article is based on is called "Detection and characterization of male sex chromosome abnormalities in the UK Biobank study" you can read it here?.? Please check it out for yourself. It is a good thing for this group to?discuss and become aware of genetic?conditions and their?prevalence in the?population. We work with genetics and understanding how genes and the genetic data we work with impacts?our health and the health or everyone we work with helps us do our jobs better.? We must be careful how we talk about these things as not all medical conditions present the very same way for all people and no one should ever share other's medical information in this forum.? Please do not become offended or dismissive of articles?and discussion on these topics as all areas of this wonderful field can be useful?to our community and we may lose an avenue to discuss them if we forget the weight of responsibility that comes with people entrusting us with their genetic data. I think this thread helped remind us of that responsibility. Thank you Andy for asking about the article and sparking a lively discussion. I will try to look over the thread another time more thoroughly to ensure your original?question was answered.? ? Smile, On Sun, Jun 19, 2022 at 1:13 PM helen duer via <h.duer2=[email protected]> wrote:
The Guardian reports that having an extra X or Y chromosome is not uncommon: Does anyone know if this would show in DNA test, for example in raw Ancestry data? TIA Andy. |
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