Sorry I don’t make the rules. It’s just science.
Hi all, it's my first time posting but I have been following up lot of posts here since I had abnormal NIPT test result came out in Oct. Lot of stories and posts here gave me hope when I was deeply frustrated, and also provided me with useful information of what to expect and what decisions to make. Thus I would like to share my own story here hopefully can provide a bit of help, apologize that this is a long post.
Oct 26, week 10: I had my NIPT test done with Natera, I was told the result will be out in around 1-2 weeks' time. During the time of wait I was very excited and couldn't wait to know the gender of my baby: I thought about if I should do a gender reveal celebration with my husband, how to share the news with my family/friends etc...
However one week after I received a phone call from my OB, telling me that my NIPT results came back abnormal with atypical on sex chromosomes. Without telling me more about it she asked me to book a genetic counselling session to understand better the situation. I looked at Natera's website but I couldn't see my test report displayed, so I tried to call Natera but they said it had to be released by my medical provider before I can see it. I called back again my OB office but she was busy so I left a message...
Thus, without knowing more about what was going on I went into deep panic, I started to google what it is about 'atypical sex chromosome' and I found lot of information. What I knew at that time was if I had a girl, she could have either X or XXX as sex chromosome and if I had a boy he could be XYY or XXY
Nov 5, week 11: I had a call with the genetic counselor from the hospital, the first thing she told me was the gender and she released the NIPT report to me. The fetal sex is shown as 'Female' and Fetal fraction is '8%', Monosomy X shows 'No result". She told me the fetal fraction is high enough so no need to redo the test. She also explained that based on what she saw the test on sex chromosome is always not very accurate and my case could most probably be a false positive.
Monosomy X with 'no result' could mean lot of things here: it could be the baby is indeed having abnormal sex chromosome, X (Turner's syndrome) or XXX; it could be mosaicism meaning some of her cells having abnormal sex chromosome and some are normal; it could be me having abnormal sex chromosome that I didn't know before; or it could most probably be NOTHING, both baby and I are absolutely fine.
She suggested to do CVS or A
... keep reading on reddit ➡
I would understand if they can link it via pedigree analysis but isn't that all correlational? How was Wilson able to conclude that red-green colorblindness is indeed located in X-chomosomes? Like with absolute amount of certainty that this is the causal mechanism?
I'm looking at rs1385699, and my raw data has two alleles (T;T). According to my promethease report (and SNPedia), having a T;T genotype is correlated with an increased risk of baldness. But if I only received one X chromosome from my mother, how can I have two alleles at this position in my raw data?
More generally, all of my SNPs have two alleles shown in the raw data, including the rows for Chr 23, and I am confused how that can be. I'm currently trying to parse out which alleles came from mom and dad for the autosomes, but I ran into this issue.
Thanks!
I spent yesterday reading and today I’m ready to post. I’m a little confused which flair applies- seems like more than one, but I wasn’t able to add any?
I got the panorama NIPT at 10+2 and I do have an elevated BMI. I got the smaller panel and came back low risk for the trisomies but no result for monosomy x. The fetal sex reads N/A. The full text reads, ‘no result for sex chromosome abnormalities due to atypical finding of suspected fetal (placental) origin. Suspected finding outside the scope of the test, involving the Y chromosome, which may include but is not limited to, fetal mosaicism, fetal chromosome abnormality, or normal variation. Fetal risk assessment for monosomy x and fetal sex could not be performed or inferred.‘ a retest was not recommended. Fetal fraction was 3.4%
I am waiting on a call from a natera GC next week and have my NT scan setup the following week with mfm and then meeting with a GC through the hospital a few days after that.
Until I get more information- I’ve read a ton of the ‘atypical’ tags and the ‘sex chromosome’ tags but haven’t seen anything else specifically mention Y chromosome. Doesn’t this mean this is a male fetus? So looking at XXY or XYY? I’m confused why the fetal sex couldn’t be determined with the presence of any Y chromosome.
Hello good people,
I hope you are all having a wonderful week. I am trying to find someone here who can help me get out of the house and do something together haha. I have not met anyone in a loong time as I got out of a super toxic relationship that ruined so much of my everything. I was in a bad place mentally. I have recovered though I still feel like there is a long way to go. I was scared to be with anyone for some time but now that i think about that I miss being physically and mentally intimate to someone I care about. So I am hopeful that I will meet someone close to where I live to offer me some company.
Growing up I used to be a super shy person but that I had broken boundaries with time. I am studying business. I have two cats whom I love very dearly. I am an occasional gamer and an avid cook. I can make you my special fried rice if you like so haha. I watch loads of tv shows and documentaries and we can definitely talk about those. I also got this great passion for interior decor and I am an admirer of the art of photography. There is a lot to tell about me honestly. I would love to answer all you queries whennwe chat. I would love to develop a connection with some one where we have both mental and physical intimacy. And then we can see where it leads us too. And even if you think I am not the type of guy you would meet or text I thank you dearly for reading this. I hope you all do well and have a wonderful week with people dear to you.
People with 2 X chromosomes face unique challenges and experiences that those with a Y chromosome don’t. If you have or had a uterus, this is the place for you! We’re here to discuss the problems and the perks that come with having two 2 X chromosomes. This includes medical topics, social concerns, sexuality and dating, representation in media, human rights, and so on.
I understand under normal circumstances the Y chromosome is passed unchanged from father to son, which makes it useful in tracking paternal lines over many generations. From my understanding, the rate of change over generations is on the pace of 1-2 mutations per 1000 generations.
I also understand X chromosomes are not useful in the same way because females receive an X from both parents. The X she passes to an offspring could be the one from her father or her mother. As a result an X chromosome would follow a zig zagging path through generations and have no real value in identifying a particular family line. This could also lead to a particular X chromosome dying out. However, I'm curious if the rate of change of X chromosomes is similar to that of Y chromosomes? Similarly, are there X chromosomes which are genetically newer than others - meaning they showed up more recently?
The title. Wouldn't x chromosome inactivation make the X linked diseased allele manifest it's phenotype?
Even if half of the ovarian cells don't have an X chromosome (due to imprinting), wouldn't the remaining cells with a functioning X chromosome be able to produce some ovarian function?
Thank you.
Edit: this one needs 2 X chromosomes
Yes I'm one of those weird variations of men. I'm 47XXY, or otherwise known as Klinefelters Syndrome.
I've been a lurker here a long time. I'm 37, I've been on TRT since I was 23.
But most days it feels like I connect better with women than I do men. I have zero desire to be a woman though. I have a beard, mostly male features, mostly due to the TRT.
I can tell if I miss a dose, especially like 2+ weeks go by. It can be brutal it's like have bad pms.
I'm not sure why I'm even posting. 😕
I'm struggling with some severe illness issues. My male friends don't want to hear it and my few female friends don't either. I'm struggling with a terminal diagnosis my dad received on Father's day nonetheless too.
But I'm glad this subreddit usually cheers me up most days.
Thanks 😁
I was reading a genetics explained website, and they stated that it is not uncommon for a male to inherit their X chromosome entirely from their maternal grandmother or grandfather. I thought the male X had to be a combination of the two X’s from his maternal grandparents..
I needs help finding it pls and thank you.
Shout out to Derrick 2 timez.
Just got my results - I was looking at my chromosome painting and I can basically distinguish which of a pair belongs to which parent even though they haven't taken the test (and won't because they think its a waste of money). My mom is Pakistani and my dad is Brazilian so its easy to tell which is which because each pair has one that is almost entirely green (pakistani/indian) and one that is mostly light blue (portuguese).
The weird thing is that one X chromosome is covered entirely by the west asian/north african category. In all the other chromosome pairs, that category shows up in the same chromosome containing the portuguese heritage. But the 2nd X chromosome contains both portuguese and pakistani/indian ancestry in it. Does that mean on of my parents coincidentally had ancestry from both of these places despite not having any known distant relatives from these regions?
I also read that a longer color segment means more recent admixture, but that further confuses me with the entirely west asian/north african X chromosome since I also have no known relatives in these regions and my parents families' lived in their respective countries for decades.
I have a bit of an anomaly here- seems like I am a one in a million guinea pig…hoping there is a small chance of someone going through something similar:
Very long story short- I had a genetic test last year and found out I am a carrier for duchenne muscular dystrophy - which is carried on the X chromosome. To avoid passing it, a PGT-M test probe was developed to test my embryos for the mutation during my IVF cycle and I also had PGT-A to test for all aneuploidies. I transferred a normal euploid non-carrier and non-affected female. I was never counseled that the NIPT could flag my duchenne.
Fast forward and I took the NIPT at 12 weeks with 8.4% fetal fraction — my test came back with an atypical result on the x-chromosome and did not return a result at all (no risk rating just N/A stating “no result would be returned because of a suspected atypical result outside the scope of the test”) for monosomy x, but the test could not identify if it was my dna, the baby or my placenta. Ultimately, my duchenne mutation is actually a very small duplication not a deletion. I got conflicting results from two people at the lab — one said it is most likely flagging the duchenne mutation in my blood and one said a duplication would probably be too small.
My NT scan was also normal range.
I am in mental hell after the past year working with genetics counselors on a probe and PGT- I never expected this when so many tests were already done and counselors don’t really know how to counsel me now since PGT is reliable and I myself have a known mutation. Retesting would continue to show my mutation if that’s what it’s picking up. Invasive testing was not recommended.
Anyone get something like this after PGT?
I'm a bit confused. Are only 1 X chromosome in each pair of XX expressed permanently or is this something that is only in development?
There was this post that is now deleted, where a girl went on a date and got raped as well as almost being stabbed to death. She then says it happened few hours ago. And that it wasnt the first rape she went through.
You can check my account on two x chromosomes post most recent.
I just found it weird that the first response after an extremely traumatic event to almost immediately post a story on reddit. I dont know about you but when i go through a traumatic event last thing i want is to let the whole world to know about it.
I also have seen documentaries on rape victims and how hard it is, psychologically, for them to even come forward after the incident. Yet this op posted about it like if she got insulted at grocery store. Maybe i am wrong and this was just a weird response, but it does feel like a teen girl trying to be edgy.
Also i think alleged rape victims should attach police reports to their stories, especially after a 60 year old was beaten to death after fake rape accusation from a teen.
Rape is serious allegation and should be taken very seriously, and it does feel like 30 to 40 percent of these posts on two x chromosomes are fake.
TLDR: i dared to question the authenticity of an extremely casual rape report by one of the users. Said post is now deleted for some reason.
Edit: op has replied something to me but got minused and delted the reply so i have no idea what she said.
Does anyone know the difference between the two? If they found something atypical on the sex chromosome, why not flag it as high risk?
