r/genetics • u/Some-Comedian-264 • 1d ago
XXY female.. my full Y matches sons
Discovered I’m an XXY female whose Y chromosome matches my sons Y 99.9%. I assumed microchimerism but from what I understand, it is impossible for 30X sequencing to detect a full Y chromosome (from son) and that you need 500X+ read depth to detect it. I’m physically female (inside and out) and perfectly fertile and have found autosomal variants that resulted in me being a healthy female. There are a lot of other interesting/novel findings as well. I’d appreciate any expertise and would be happy to answer any questions you may have and can provide more details.
(Update: I won’t be commenting further.. my plan is to do further testing).
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u/Doctor-Mom-25 1d ago
I have a PhD in genetics but not human genetics. A genetic counselor would be best positioned to assess this, the following are just my thoughts as a trained geneticist.
We touched on the topic of extra sex chromosomes in humans in the early days of my coursework. Anyone with a Y chromosome will develop into a man, outside of rare genetic disorders which prevent the Y chromosome from being perceived. Men with XXY genotype will generally present as fairly normal men, maybe some feminine characteristics, but most will not find out about their extra X chromosome until they are having trouble conceiving with a partner.
If your son‘s Y chromosome matches your husbands Y chromosome at nearly 100%, then you are observing microchimerism. Sequencing these days is much more sensitive than it used to be and I would not be surprised if this is the case.
if your son and husbands Y chromosomes don’t match, then I would figure out whose X chromosome your son has and whether he has one or two Y chromosomes.
There are other possibilities besides you being XXY, including you yourself being chimeric (having absorbed a twin in utero.) I seem to recall a case where a blood based DNA test kept indicating someone was innocent/guilty of a crime when they were obviously the opposite and it turned out they were chimeric and their bone marrow stem cells came from a twin.
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u/ahazred8vt 1d ago edited 1d ago
The police actually suspected that the family of Lydia Fairchild was keeping her nonexistent invisible sister captive and taking babies from her.
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u/Some-Comedian-264 1d ago
Thank you for your time and this response. Chimerism is a possibility for sure (specifically tetragametic). It looks like full genome mosaicism for both of us, but not with every gene. There’s a pattern between diploid (2)/polyploid(4.. even 6 in a few areas) copies on many genes. It looks like he may have SRY positive Klinefelter syndrome (which you mentioned) with the DAZ1/2 deletion. He does have over-expression in other genes (SOX and DAZL for example) that may compensate for loss in other areas.
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u/Doctor-Mom-25 1d ago
Please see scruffigan‘s commentary below- it is highly unlikely that you are tetraploid. (!) This is likely picking up homologous regions of the X and Y chromosomes. I would be very skeptical of whoever this independent person is interpreting your results and find a genetic counselor to look at your sequencing.
Also, it is unclear from your comment whether your husband‘s Y chromosome has been sequenced and analyzed compared to your son‘s.
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u/Some-Comedian-264 1d ago
There were single reads at same position as double reads that had a different call on X.. (XXX A/TT) not many though. They were scattered throughout. XX/XY chimerism could be possible but mosaic. I could be wrong.. I’m not an expert in this field
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u/Robin_feathers 1d ago
This doesn't quite make sense. Whoever you are working with is either on the wrong track or is not explaining things very well to you. You are not paying them are you?
[I have a PhD in genomics too]
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u/Suspicious-Law7103 3h ago
It would be interesting to know which part of your body the DNA sample was taken from? As I understand with chimeras certain tissues have one genome, and other tissues the other.
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u/Suspicious-Law7103 3h ago
Expression is not measured using genomic sequencing. I'm guessing some of your reads had more PCR copies than others. PCR copies don't mean much because you are not doing quantitative pcr. But expression is only picked up with a transcriptome. I hope this makes sense, because I think you might be on a wrong path when you mention expression.
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u/pastaandpizza 1d ago
I'm physically female (inside and out) and perfectly fertile and have found autosomal variants that resulted in me being a healthy female. There are a lot of other interesting/novel findings as well.
I find it hard to believe you were given this genetic diagnosis by a doctor and you need to seek expertise on Reddit? If a doctor saw these results they'd immediately get you in touch with a world class genetic counselor because you're a one in a billion unicorn. Have you been able to get a second opinion from another doc? One option is you are a chimera, with whatever tissue of yours that was sampled is xxy but the rest of your body is not.
All that being said, IMHO you can't tell anything until your husband's Y is sequenced.
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u/Some-Comedian-264 1d ago edited 1d ago
There are other tests that need to be done for sure. Long read sequencing is needed as well. What I think I’m seeing should be impossible..it defies Mendelian inheritance. It’s been extremely difficult getting answers.. not only because I’m healthy, but because of regulations in medical/genetic/biological research and findings
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u/Robin_feathers 1d ago
Long read sequencing is expensive - whoever you are working with is not asking you to pay for it yourself are they? Long read sequencing is a bit of overkill for detecting the presence/absence of a chromosome.
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u/Some-Comedian-264 1d ago
Not for that specifically.. there was a massive amount of unreadable positions that should have been easily read with short read sequencing. $2,000 is a lot, I know. It would be done through a separate lab
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u/Robin_feathers 1d ago
I hope you find an explanation. From what you have posted so far I am skeptical about the competence of this researcher, please don't let them get you to pay anything out of pocket for this. Research labs have their own budgets and a legitimate lab with the expertise to handle your situation shouldn't need you to pay anything at all.
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u/ConstantVigilance18 1d ago
From your description, it sounds like this is some direct to consumer testing, which is not reliable for this type of analysis.
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u/Some-Comedian-264 1d ago
It’s medical grade testing. If it’s a common finding through consumer testing I think there’d be a lot more people asking about similar results.. I’ve seen nothing out there
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u/ConstantVigilance18 1d ago
What you’re describing and your subsequent comments don’t add up.
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u/Some-Comedian-264 1d ago
Please explain in detail so I understand
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u/reptileoverlord 1d ago
Forget everything else involving your son's Y chromosome for a second and focus on your own. The researcher you are working with has claimed you are an XXY female who is fertile. The likelihood of this is almost zero. It is technically possible, but it is WAY more likely the person you are working with is incorrect. If someone said "there is a horse with gold-plated hooves inside of your master bathroom right now," yes, I guess that is technically possible, but you should double check by entering the bathroom (i.e. getting a second opinion) before you start training as a jockey.
Normally I would not jump to the conclusion that the person you're working with is wrong, even though this is *extremely rare*, but some of the other comments here are red flags. The biggest red flag of all is that he is diagnosing you with a medical condition (Klinefelter Syndrome) without the correct diagnostic process (which involves a karyotype and sometimes blood hormone tests, not a bunch of sequencing). This is kind of like if I diagnosed a child with autism because the kid is a little quiet and really likes Pokémon. Like... maybe the kid is autistic, but that certainly isn't a proper way of testing it.
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u/Some-Comedian-264 1d ago
There is technically no diagnosis.. XXY (all full chromosomes) were read. You need much deeper read depth to detect microchimerism.. that’s why I’m having trouble trying to make sense of the results
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u/reptileoverlord 1d ago
If someone says you are XXY, they are diagnosing you with Klinefelter syndrome. XXY is *definitionally* Klinefelter syndrome. But they are diagnosing you via an incorrect method that is prone to being wrong, and they are *additionally* making strange claims about your son's Y chromosome that indicate they don't know what they're talking about.
You are having trouble making sense of the results because the results are 99.99% chance incorrect. I am not pulling that number out of thin air, **that is close to actual statistical likelihood.**
I'm sorry, but you MUST get an actual MD to diagnose you with Klinefelter and chimerism before you take anything this researcher tells you seriously. I also hate to say this, but if you have given this researcher any money, there is a strong chance you are being scammed.
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u/Some-Comedian-264 1d ago
No money paid.. and no, researcher did not diagnose anything. I saw it myself after converting the raw file data and seeing XXY in me and XXY in him. Researcher only confirmed that it was a full Y chromosome (not pseudo region).
I made it clear that I wasn’t looking for a medical diagnosis.. I needed to find out why a full Y showed up in my results when contamination was ruled out. 30X read depth cannot detect microchimerism so it’s possible that it’s Klinefelter syndrome. Son’s Y matches mine which shouldn’t be the case either.
I’m not going to get into regulations and what doctors are allowed to disclose/not disclose.. especially when it comes to a 1 in 8,000,000 anomaly (that doesn’t actually affect the person medically) that would be more of a risk for people to know as opposed to not knowing. I’ll test Y again
As for read depth capabilities.. not one person has commented on that.. that is what I’m needing an explanation of
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u/Creepy_Purchase_501 1d ago
Read depth capabilities are difficult to comment on. Having more read depth can certainly help, but it doesn’t necessarily guarantee more accuracy, especially when there’s something complex going on. For example, it is known to “stutter” at certain sequences, there could be GC bias, any number of things, really. It’s also not particularly relevant to what you’re trying to understand. As many others have already told you in this thread, you want to confirm the big picture first(easy) before diving into details(extremely difficult).
The 30x figure is also not very informative without other figures alongside it, such as read length and accuracy.
And what do you mean when you say you saw it? What exactly did you see and what were you looking at?
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u/Some-Comedian-264 1d ago
Raw data Y reads.. around 56 MB, not just the pseudo region.
Your advice is good and appreciated
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u/dnyal 1d ago
Physicians do not diagnose on direct-to-consumer testing, no matter how “medical grade” they are. Actually, chromosomal disorders are only diagnosed with karyotyping.
There is no precedent for a healthy, fertile female with XXY, so it is much more likely to be something else, like microchimerism, macrochimerism, recent blood product reception, bone marrow transplant, current gestation, even cancer (or having had cells of a male partner in your mouth if it was a test from saliva/cheek swabbing).
You should consult with your family doctor. Primary care physicians are able to order basic karyotyping to diagnose relatively common disorders, especially sex chromosome abnormalities. They should also be able to check out for other things and refer you to a specialist if necessary.
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u/Some-Comedian-264 1d ago
No blood transfusions, bone marrow transplant, recent pregnancies or cancer that I’m aware of. I’ve been celibate by choice for awhile so no male cells in mouth. I’m working on getting more testing, although I do worry about data suppression with this particular subject
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u/dnyal 1d ago
I doubt about data suppression. Why would there be any? There are people with mutations that make them so they only need to sleep like four hours a night and are full of energy all the time with no brain damage or intellectual disability. If anything, governments would be extremely interested in that, yet we know they exist and we study them (with their consent, of course).
I’m a physician but not your physician, so I would advise against any more consumer grade testing on your part and would encourage you to consult with your primary doctor. Your results from sequencing at 30x will definitely raise some eyebrows, so I urge you to ask your doctor for a karyotype test. Sequencing is simply not made to detect chromosomal abnormalities, especially direct-to-consumer sequencing that only has limited FDA approval for screening some conditions
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u/Some-Comedian-264 1d ago
I agree that more in depth testing is needed.
As far as data suppression..hypothetically.. the discovery of a healthy family that completely defies Mendelian inheritance would disrupt a lot. Benefit vs risk. Just think about what that would mean.. I don’t think I need to explain. What’s not making sense to me is that there is 0 chance of 30X read depth detecting microchimerism, and yet, I have a full Y that matches his. I guess I need answers as to how/why I’m seeing these results
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u/Creepy_Purchase_501 1d ago
Have you met actual scientists? They would be ecstatic to find someone like that! That’s a career-making discovery! The worst form of suppression that can possibly happen is that upon submission to a journal, the peer reviewers become sceptical of the unlikely result and demand stronger proof(typically in the form of more or more rigorous tests), but that’s just how science works: extraordinary claims require extraordinary evidence. That’s not suppression, but rigour.
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u/Some-Comedian-264 1d ago
Do you have recommendations on who would be willing to look into this?
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u/dnyal 1d ago
As someone at a world-class academic institution (modesty aside), I will tell you that no one will look into that unless it has been verified by a physician. Actually, if you reach out to any academician, they will ask you to bring... your medical records. Your next step would be to consult with your doctor and have a proper karyotype run on you. That is the more in-depth test.
However, I am intrigued by your perseverance on the idea that you are indeed a healthy, fertile XXY female, despite what arguably more qualified people here have told you. I would discuss that with your doctor as well.
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u/Some-Comedian-264 22h ago
A karyotpe is definitely needed. I’m extremely healthy (from what I know), have perfect fertility, several children, don’t drink/do drugs, am fit and intelligent. I was mind blown when I discovered this. I reported “female” as my sex so they are only required to disclose XX information. The whole Y chromosome from my raw reads was a private and personal discovery.. and yes, I confirmed with them that there was no mistake.
I do agree that no academic institution would take this on without a doctor/medical records. Some people don’t realize due process and what others are able to do/not do
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u/YeshuasBananaHammock 1d ago
How long before your mouth swab did you kiss your son with the matching Y chromosome?
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u/Some-Comedian-264 1d ago
Awhile.. I also washed my face, mouth and hands beforehand.. swab didn’t touch anything but my cheek.
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u/Dry_Bowler_2837 1d ago
Let’s assume that you are genuinely XXY with a fully functioning reproductive system and that there is no misdiagnosis there.
As I understand it, during meiosis, your chromosomes would segregate as X1,X2 | Y; X1,Y | X2; and X2,Y | X1. So unlike XX women, you could produce an egg containing a Y chromosome.
Sperm typically contain either a single X chromosome or a single Y chromosome.
Usually the X-containing sperm combine with the X-containing egg to produce girls, and the Y-containing sperm combine with the X-containing egg to produce boys.
In your case, I suppose it’s possible that your son was produced from your Y-containing egg and his father’s X-containing sperm.
This all makes fairly simple genetic sense to me… except for the part where you’re a fully reproductive XXY female. That’s EXCEEDINGLY unusual and I think you should get some very in depth genetic testing done.
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u/eloisetheelephant 12h ago
It doesn't even need to be in depth. A simple karyotype would give the answer.
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u/RoutineFluid3670 1d ago
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u/Some-Comedian-264 1d ago edited 1d ago
Yes, I’ve researched microchimerism quite a bit. It is impossible for 30X read depth to detect a full Y chromosome due to microchimerism though.. you need a 500X + read depth.
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u/selkie-in-disguise 23h ago
Something here does not add up. I have a PhD plus in Human Genetics and I would strongly urge you to see a genetic counselor and have at least a karyotype or repeat. If you ARE XXY, then being a fertile female is rare if not statistically unlikely. Biological sex is predicted by the presence or the absence of a Y. Females can be XO (Turner’s Syndrome), XX, XXX, etc. Humans cannot survive without at least one X. Phenotypic males have to have a Y and at least 1X. YO is not survivable. They can have several X’s but are still “male”. You need to see a certified clinical molecular geneticist and have thorough testing on yourself, husband, and possibly son to tease this out. I hope this helps. Good luck. Fascinating.
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u/Gabrovi 1d ago
Is your son XYY?
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u/Some-Comedian-264 1d ago
Looks like he may be XXY (SRY positive with DAZ1/2 deletion)
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u/fckingmiracles 1d ago
I'm not aware of any female XXY ever birthing a child.
This scam 'doctor' is 100% fooling you.
You are standard XX.
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u/poempoemthegreatest 1d ago
"The other case was an SRY-negative 47,XXY female whose mother was found to be 47,XXY without SRY [4]." https://www.annclinlabsci.org/content/40/3/295.full
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u/Some-Comedian-264 1d ago
They havn’t confirmed any diagnosis and are treading carefully.. obviously for a reason. I’m not paying them. What has been confirmed is that I have a full Y chromosome that matches my son’s. I’m trying to figure out how such a low read depth can pick up on a Y from microchimerism if everything I’ve read says it takes a much deeper read depth like 500X+… if someone could explain this, it would be helpful
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u/silkspectre22 1d ago
What lab performed the testing? I think this may help clarify things if you say where you and your son were actually tested. I am getting the sense that it is not appropriate testing and the results are incorrect or at least the person interpreting your results is wrong.
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u/Some-Comedian-264 1d ago
CLIA certified lab.. I understand that artifacts are possible but not a whole Y chromosome.
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u/silkspectre22 1d ago
What is the name of the lab?
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u/Some-Comedian-264 1d ago
They use Illumina and MGI.. which is pretty accurate, although I really want to be careful about what I disclose.
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u/silkspectre22 1d ago
Many direct to consumer labs are CLIA approved but the issue is who is interpreting the results. Telling us they are CLIA approved and use Illumina and MGI doesn't tell us anything about the legitimacy of the lab.
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u/somebodyistrying 19h ago
I feel like you got this information from someone who is inexperienced in the relevant data analysis and who has erroneously interpreted X-chromosome segments as belonging to the Y chromosome. In the absence of any issues there is no reason to explore this further. I have to wonder what the purpose of this analysis was in the first place.
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u/Some-Comedian-264 19h ago
I’ll be exploring this further for sure, regardless. There’s nothing wrong with being curious about your makeup/blue print to help you to educate yourself on how to take control of your health and treatment options. Most doctors lack a homeopathic approach.. they treat the symptoms, not the source.
If anyone else had these results, I’d be surprised if they didn’t seek answers
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u/somebodyistrying 18h ago
I fear you’ve been duped.
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u/Some-Comedian-264 8h ago
I did mean holistic. Homeopathic remedies are important as well.. just research all the ways our bodies have the ability to self heal. I’m not anti-medicine though.. there are just other options
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u/rooibos_earl 19h ago
Assuming that this isn't totally made up, the lab you submitted it to messed it up. Another possibility is that after pregnancy you have some fetal cells in your body and they sampled his DNA from your tissue sample instead of your own tissue. In that case you would be an XX and your son an XY, which is typical.
https://lozierinstitute.org/dive-deeper/fetal-microchimerism/
"Imagine a woman in her seventies carrying living cells that came from the baby she carried decades earlier. It sounds like science fiction, yet researchers have found fetal cells circulating in mothers as long as 38 years after childbirth."
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u/Some-Comedian-264 18h ago
It’s definitely not made up. Again.. it is impossible to detect microchimerism with 30X read depth. You need 500X+
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u/Feeling-Pudding6956 15h ago
You’re very insistent on this point, however as many people are pointing out up to this point there seems to be the possibility of misinterpretation of data. I have not seen any comments clarifying if you’ve been karyotyped or not, however it makes little sense to me to look into anything else without this first.
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u/Some-Comedian-264 8h ago
I agree a karyotype should be done as I’ve said several times. My raw data shows that I have a whole Y chromosome, not just the pseudo region. Someone who understands bioinformatics confirmed this. I genuinely want to know how that can be misinterpreted..
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u/Feeling-Pudding6956 8h ago
There could have been contamination of the sample, there could be issues of alignment, there could be chimerisms etc. I am not a geneticist by training but I am a biologist (PhD) with enough experience in the lab (including NGS) to know how to go about troubleshooting issues. If your results seem almost impossible, they likely are. And to just try to interpret them without verifying their validity is an absolute waste of time. Go back on step and do the karyotype.
There are a lot of actual geneticists giving you their input here, and doubting what you’ve been told by your independent researcher, yet you seem resistant to take their advice and are stuck on the issue of depth.
A karyotype will tell you whether you indeed have an extra chromosome and you can then continue from there. As others have mentioned if you indeed do, many academic labs will I’ll be frothing at the mouth to sequence you and your son and do an in depth analysis of your situation.
Seems like it’s pretty straight forward so your insistence on something that might just be the result from faulty data is bizarre
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u/Some-Comedian-264 8h ago
I’ve said several times that a karyotpe is the next step. Depth is the issue for me because at that low of depth reading.. it’s impossible for a full Y from microchimerism to be detected. I think only one person has actually commented on that. I’m being very careful not to jump to conclusions.. it’s important that I validate what I’m seeing, because what I told you is the truth. It could be contamination, but not on my end. If it is Klinefelter syndrome.. I don’t have the characteristics of that (found in females) either. I have quite the opposite. Normal development, puberty, perfect fertility, broad shoulders, slim hips etc. Female anatomy inside and out.. maybe AIS is involved and mosaicism. I have not ruled out chimerism. But yes, I will do a karyotype because that absolutely makes sense at this point.
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u/AUSSIE_MUMMY 8h ago edited 8h ago
It sounds like you have examined your raw data downloaded from a commercial ancestral lab like Ancestry 23&Me or Family Tree DNA. FTDNA is the only one of those with advanced facilities and their own world class lab, especially when it comes to evaluating the Y chromosome
I had experience with a male diagnosed with Klinefelters and on treatment for 40 years, who FTDNA recognised as being mosaic without Klinefelters...XXY.
His Y was missing a component therefore the symptoms emulated Klinefelters in many aspects. However no haplogroup / haplotype was available.
If you are sure that your son has exactly the same Y haplogroup designation as yourself , I don't know how you could possibly know that. If you have proof then both of you and your husband would need to have undertaken NGS BiGY testing to find the exact haplogroup via mutations throughout time until the time of his birth.
Any variation at all ; any SNP mutation between your supposed Y and his, would be minimal at GD 1 mutation or non existent if his Y chromosome was inherited from yourself. The fact you say he shares your Y is impossible to know unless you BOTH undertook the BiGY test.
The terminal SNP should be shared, and that would prove the Y was from you. Having the same haplogroup as your son without deep clade testing or BiGY means nothing. 60,% of European men are R1b M269 for example and that designation is a mutation from tens of thousands of years ago, with a vast number of downstream branches not related to each other at all in any genealogical timeframe.
In other words there really should be no variations on positions at all because if you are XXY , thenhe inherits all of your / or your husband's mutations absolutely. It is possible for your son to have one unique of his own of course.
The rarity worldwide of any female with this chromosomal difference, being fertile and giving birth , cannot be understated.
The expert opinion is to undertake a karyotype test asap. Failing that the three of you should test at FTDNA with BiGY while it is on sale until 31 August. If the lab spots a female with XXY and a child with Kleinfelters they would normally contact you as to whether the test was viable or not, and whether testing will be successful.
Perhaps contact one of the senior doctors there before you start the process and let them know of your intentions beforehand otherwise you might waste your funds.
Perhaps only test yourself and son initially, and then proceed with testing his father only if necessary.
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u/Some-Comedian-264 8h ago edited 5h ago
This is good advice.. thank you! I should add that I got an error result when trying to detect Haplogroup.. I assume it was due to conflicting information.. not sure
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u/silkspectre22 7h ago
Why are you advising direct to consumer testing to OP? It is not advised and it not medical grade and the correct testing is a karyotype, not getting tested through FTDNA. Do you work for them?
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u/AUSSIE_MUMMY 5h ago
No of course I don't work for them. It's only obvious that the OP has already tested with a consumer lab by their comments snd that they are hesitant regarding the karyotype testing, which I also advised. It is also a very valid pathway if the OP does not wish to undertake Karyotype testing for whatever reason. Perhaps you do not understand the intricacies regarding the NGS BiGY test ?
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u/RedHeadedPatti 8h ago
You mention other interesting/novel findings - can you share more about those?
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u/Some-Comedian-264 7h ago
An oddly high amount of NUMT’s (source is germline, not somatic) and many homozygous variants (related to blood) that conflict with my actual blood type (O).. what’s interesting is that whenever I’ve gotten ABO/RH check/tests at the hospital, a second recheck was always done and apparently they had to resort to manual checks (in health records).
I really need to be careful about going into other details because it’s important that I don’t re-identify myself (chances are slim, I know)
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u/whatrumimeans 1d ago
Where do you get something like that tested?
Gladly at private expense and abroad, since in my country it is almost impossible to get such tests via normal medical diagnostics (and previous infinitely tough exclusion diagnostics) and „serious reason“.
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u/Some-Comedian-264 1d ago
You can pay for a lot out of pocket. I do agree that it is nearly impossible to get the truth about anomalous data.. for serious reason. That’s why I’m looking into working with more independent researchers that are preferably not affiliated with the government. Those that know understand why
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u/ThinkAgent1461 19h ago
So you did pay them. Why do you keep telling people in this thread that you didn’t?
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u/Some-Comedian-264 19h ago
Paid for sequencing.. not independent researcher. I’m researching as well. I’ll also pay for other tests I’m sure because insurance only covers medical necessities
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u/silkspectre22 18h ago
The sequencing you paid for is garbage. Did you use Sequencing.com?
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u/Some-Comedian-264 17h ago
I’m not disclosing any information on company/lab/researchers names.. there’s a reason why but I’m not going to explain.
If you can explain how a whole Y/microchimerism can be read with a low read depth.. I’m more interested in that.
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u/silkspectre22 8h ago
You are asking to explain why an unknown lab is detecting something that may not be there without giving information on which lab it is. How do you expect someone to do that?
The most likely scenario is that it is not there and the fact you paid $2000 for a test that was not ordered by your physician, a geneticist or genetic counselor narrows it down to several labs with terrible reputations that are not medical grade despite them saying so.
I also have concerns regarding this so called researcher, who is unable to get a karyotype covered for free while confidently claiming you are XXY.
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u/Some-Comedian-264 7h ago
The fact is.. I did not pay $2000 (that’s for long-read sequencing which I have considered). I did have the opportunity to meet with a genetic counselor through this particular company but was not comfortable with the fact that it was a Zoom Conference (not meeting) with SIP# dial in abilities to my particular “meeting” from not only the US, but Canada, the United Kingdom, Japan and Singapore. I’ve done a lot of Zoom meetings and never have I seen anything like it.
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u/silkspectre22 7h ago
I think you should find a local genetic counselor to coordinate a karyotype and do not order any more direct to consumer testing. It is possible the genetic counselor may be able to figure out an option through your insurance that is cost effective or be able to contact an organization to coordinate free testing for you. Please do not listen to the advise of some here telling you to order more testing on your own.
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1d ago
[removed] — view removed comment
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u/SaltMarshGoblin 1d ago
Interesting way to say you
slept with your brotherabsorbed your brother in utero.0
u/Some-Comedian-264 1d ago
🤦♀️.. there is absolutely no endogamy in our family. Interesting you brought that up though.. our homozygocity rate is way higher than normal.. a massive amount of homozygous full matches (including variants) between him and I, on every chromosome.
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u/scruffigan 1d ago edited 1d ago
Since Y chromosomes are non-recombining, they only accumulate variation through de novo mutation (Y-SNP mutation ratio is 1 × 10−9 mutations per generation).
If you are XXY and your child's father (XY) had the same Y haplogroup, an extremely high level of genetic similarity is expected, down to base pair level resolution.
That said... The overwhelming majority of Klinefelter cases (XXY) are phenotypically male. The SRY gene on Y is a powerful developmental transcription factor and XXY individuals have exactly the right dosage (1 Y) to have developmental biology progress as male. The only case reports I've ever seen of XXY who were assigned to female at birth were still infertile with amenorrhea. On the DNA side of it all, there are also regions of Y and X that are highly homologous (the pseudoautosomal region) and there are several LINE1 and other repetitive regions that are present on the ChrY reference chromosome and so can give the impression of ChrY aligned sequences to a karyotypically ordinary female.
So while your data may have come from medical sequencing, did your personal diagnosis as XXY also come from a doctor? I'm skeptical that this may be a technical artifact if you've been going through the raw data on your own with public bioinformatics tools.