Breast Cancer genetics study from home— sharing in case it helps:

This Rutgers study is looking for genetic clues to prevent BC and create better treatments. It takes 5 minutes to sign up, they send a free kit, you spit at home and mail it back. That’s it. You get a free ancestry report as a thank-you.

Who can join: Anyone 18+ living in the U.S. can join, but they especially encourage those with breast cancer or family history.

Why I’m posting this: they’re trying to reach communities that research has historically missed, and word-of-mouth from people in the study reaches more people than their own outreach does.

Link if you’re interested: https://join.rugcc.org/r?T4.gdjmcc

Hey everyone! I hope you’re all doing well.
I was wondering if anyone here with Klinefelter syndrome has noticed whether their index finger (2D) is longer than their ring finger (4D).
I came across some research suggesting that people with Klinefelter syndrome may have a higher 2D:4D ratio, meaning the index finger tends to be relatively longer compared with the ring finger. I’m curious whether this is something people with KS actually notice in themselves.
For those who have KS, is your index finger longer than your ring finger, or is your ring finger still longer? Is there much variation between people?
Of course, I know everyone is different and finger length definitely doesn’t define anyone or their condition. I’m just curious about people’s experiences and whether they line up with what the research suggests.
And to anyone with KS who might feel self-conscious about little physical differences: you’re absolutely not alone, and there’s nothing wrong with being a little different. 😊 You’re still you, and that’s what matters!
Thanks in advance to anyone who feels comfortable sharing!

\​

​Una microduplicazione sul cromosoma 16 a livello della banda 16p13.11 (citata in letteratura come microduplicazione ricorrente).

​Delle duplicazioni a significato incerto sul cromosoma 8 (nelle bande 8p21.3 e 8q22.3, quest'ultima che coinvolge anche il gene RRM2B).

Per noi non del mestiere che cosa vuol dire? Grazie

I actually have two copies of this gene (one from each parent), or DRD4 13-bp deletion. Many autonomic issues. Would any dopamine agonists help? Since the D4 receptor isn't really there...would anything help?

​

​Una microduplicazione sul cromosoma 16 a livello della banda 16p13.11 (citata in letteratura come microduplicazione ricorrente).

​Delle duplicazioni a significato incerto sul cromosoma 8 (nelle bande 8p21.3 e 8q22.3, quest'ultima che coinvolge anche il gene RRM2B).

Per noi non del mestiere che cosa vuol dire? Grazie

Hi everyone, I’m 37+3 weeks pregnant with a baby boy and would really appreciate opinions on how concerning these measurements are for skeletal dysplasia, particularly achondroplasia.

All previous anatomy scans have been normal and NIPT was low risk. At 31 weeks, the detailed scan specifically documented normal bone anatomy, normal limb movement, normal hands and normal facial anatomy:

* FL 58.9 mm — 32nd percentile

* HL 49.6 mm — 10th percentile

* EFW 31st percentile

At around 35 weeks, a routine scan showed that FL was 64 mm (meaning it had dropped to 7th percentile, measuring 33+1).

Interestingly, a repeat scan at 36+6 reportedly had the femur measuring at 36+0 weeks (I don’t have the measurement in mm or the percentile, they didn’t give me the report).

Today at 37+3, we did another scan which showed unexpected results for femur and humerus length.

* FL 65 mm — <1st percentile on the ultrasound machine, measuring 33+4

* HL 56.8 mm — ~1st percentile, measuring 33+0

* HC 18th percentile

* AC 68th percentile

* EFW 2,955 g — 35th percentile

There were no reported abnormalities of bone shape/mineralization, hands, thorax, skull or facial anatomy, and fluid/Dopplers are normal.

My husband and I are both of pretty average height (5’5 and 5’10).

My OB said skeletal dysplasia is possible but unlikely and is referring me to fetal medicine next week. He also mentioned that measurement variability is common this late in pregnancy, particularly given the discrepancy between the last two scans.

For those who are familiar, how is a pattern of isolated late-third-trimester shortening of the femur and humerus generally interpreted? Is this a pattern commonly seen with constitutional variation, or is late-onset shortening particularly characteristic of conditions such as achondroplasia?

Thank you!

Hi everyone,
My little baby girl is one month old. She was born full term through an emergency caesarean section without fetal distress during labour. When she was born she spent some time in the NICU and was found to have feeding difficulties- she had a poor sucking and swallowing reflex and would either tire out too quickly or wasn’t able to cope with the flow of the teat. She was also found to have abnormal recoil reflex. Otherwise she was healthy with good birth weight.

She underwent all sorts of tests to determine the cause of her problems including genetic testing and was found to have a chromosomal abnormality as follows:

“ISCN: ar[GRCh38] 1q23.324.2(163648013_168348665)x 1

SNP microarray testing revealed a female pattern with a heterozygous, interstitial loss of 4.7Mb at 1g23.3g24.2, which involves 27 protein coding genes and 8 disease associated genes, including the haploinsufficient gene PBX1 (OMIM
#617641).”

The clinical geneticist informed me that this was a rare chromosomal abnormality and there is a high risk of renal tract and kidney abnormalities associated with this condition, along with learning difficulties, developmental delays, feeding and muscle tone problems and congenital heart defects.

I did some reading on this gene deletion and the problems associated with it but didn’t get a lot of clarity on the phenotypical presentations.

Does anyone have any advice/words of reassurance regarding this condition? How severe are the developmental delays and are children born with it expected to catch up with their milestones? How long do the feeding issues typically last for? Do they get better as you introduce solids?

I have found out I have a gene mutation (AA/A-)
I’m currently 15 weeks pregnant. Me & the same father have a healthy 5 year old son already. His carrier status is unknown. Please ease my mind!!

Hi everyone,

Few weeks ago, I received a devastating NIPT result that said that my baby had a high risk of having Trisomy 13. Link to my original post: https://www.reddit.com/r/NIPT/s/GbzMGtWnxz

I just did an amniocentesis (thankfully they managed to avoid going through my anterior placenta) and I am expecting to receive the result next week. I have been told that, as per the NHS policy (I am based in the UK), the sample will be tested with QF-PCR and if it comes back normal, then they will consider it sufficient and won’t do any further testing given that they do not see any abnormalities on ultrasounds.

I understand that QF-PCR cannot detect low level mosaicism (under 10-15%), so I am wondering if I should get karyotype and microarray done just in case? I was told that I can arrange this privately using the sample that the NHS took, so I don’t have to go through the procedure again. It is going to cost £1k-2k.

I want to do it for peace of mind, but at the same time, I have read academic papers that say that low level mosaic results may not represent true fetal mosaicism, so I am worried about getting even more confused if the further testing shows say 5% mosaicism.

If you have any advice, or if you’ve been through something similar, I’d really appreciate hearing your experience.

15 weeks pregnant with a boy and got carrier screening back from Natera. Report was

Intermediate allele size detected for fragile x
45 CGG repeat allele and a normal size 23 allele were detected in the FMR1 genes.

I don’t have an appointment with my doctor for another week and a half and trying to educate myself in meantime / not spiral. From what I’ve heard my child won’t have fragile X syndrome? But their offspring could if they are also a carrier?
Even if he doesn’t have fragile X syndrome can he still have health issues if he is carrier?
Does this mean one of my parents is a carrier too?

Thank you for anyone’s input. Hoping for the best.

Suffice to say, I have never been worked up because of my skeletal dysplasia. Meaning I’ve seen a geneticist and had genetic testing but never looked over thoroughly. So I had what was called a “detailed dysmorphia evaluation” by a second geneticist. And it was interesting, not because you’re talked about in such a clinical way (there were two gcs present so the doctor was showing them his findings) that it can feel a bit like you’re “on display” but at the same time, it’s kind of a relief to have a thorough look at the various parts of your body.

So for example, I have a 2.5 cm limb length discrepancy apparently. I’ll let the notes do the talking:

“Leg length discrepancy -- left leg ~2.5 cm shorter than right, differences noted at ankles and patella, suggests femur/hip cause”

Now, I also have hip dysplasia but perhaps that is why I waddle when I walk, in part.

I also have microdontia, thorax asymmetry (which I’m finally glad someone looked at because I’ve had one side of my rib cage stick out for as long as I can remember), systolic heart murmur high pitched especially at apex II/VI (which is probably due to my mitral valve regurg), microstomia (cannot open my mouth very wide at all), sparse or absent eyelashes (already knew that, mascara does nothing for me), narrow face and while the doctor told me “prominent eyes”, in his notes he wrote “proptosis”.

So, I learned a bunch of new information about myself, which was something. The hard part is figuring how much of this is from the existing TRPS and how much of it could be another pathology but that’s why I go back in a few weeks to get whole genome sequencing. And since the doc I saw actually has a lab and does research, he said if wgs show nothing it’s not the end of the line because they’ll get my raw data files I guess? And look at it themselves etc.

Another thing I learned was that I am NOT as tall as I thought I was lololol. I always say 5’7 because that’s what the standometer says at the drs office, but this time they used a laser tool for measurements. And I’m apparently 5’4 and a half?

Height 163.7 cm
Lower segment 86.6 cm
Arm span 162.5 cm
 

Upper/Lower segment ratio: 0.93 (Upper/Lower Segment Ratio < 0.85 in 'whites', <0.78 in 'blacks')

Arm Span/Height Ratio: 0.97

So what I’ve gathered is that my legs are longer than my torso, which makes sense. It’ll be interesting to see if anything additional turns up in terms of genetic disorders but I’m personally not holding my breath

Hello,

I have a rare intersex condition called 46,XY ovotesticular dsd in which I have male chromosomes but gonads that are both ovaries and testes and other ambiguities like mullerian organs despite being genetically male. My geneticist and I found the cause of my disorder and it is a relatively large deletion upstream of SOX9 in the "regulatory desert" in which according to my geneticist, the insulating region between two major topologically associating domains (TADs) responsible for gonadal differentiation was deleted, causing the two neighboring domains to fuse and he calls it an enhancer hijacking mutation, which is well characterized in certain DSD cases. However, I don't seem to understand the complex biology outside of a few keywords. I was wondering if someone here could explain to me why

1. why deleting seemingly useless and nonfunctional insulation causes problems
2. what he means by "enhancer hijacking"
3. how this specific deletion causes me to have ovarian tissue despite being genetically male

Like you would explain to a 5 year old? Admittedly, I don't know much about my genetics despite studying my own condition in my free time.

Thanks for reading and I appreciate your responses in advance!

Hi there. I'm hoping I can reach some parents of children with this diagnosis to seek advice if they would carry out their pregnancy or stop it. Quality of life is something we so very much value, and the unknowns with this is terrifying due to the incomplete penetrance and high variability. Geneticist said there is about a 7-15% chance baby would be clinically affected. But there are still limited studies surrounding this. Thank you

Dmd gene exons 26-30 duplication.
Has this ever been seen?
Genetic counselors did not know what it could possibly cause , said it could be severe , mild, or possibly even asymptomatic.

Original post: https://www.reddit.com/r/ClinicalGenetics/s/7XQbElIeax

To summarize, at 20 weeks, baby had short long bones and bilateral pyelectasis. 

Between 20 weeks and the next scan, I elected to do the vistara blood test which came back low risk across the board. We already had a low risk NIPT from 10w3d. 

During the 24 week growth scan, baby still had persistent short long bones and bilateral pyelectasis. MFM, GC, and my OB became concerned about non-lethal skeletal dysplasia At this point I was ready to an amnio to get more answers.

My whole exome sequencing results came back yesterday (13 days post-amnio) and all results were normal/negative. No pathologic mutations were found. Granted, we are still waiting for the karyotype results but taking the WES results and normal CMA results, we feel confident the karyotype will return normal results as well. 

All data at this point strongly suggests a constitutionally small baby. We will keep monitoring growth as well as the pyelectasis through growth scans at 28 and 32 weeks. 

These past 6 weeks have been horrible and easily the most stressful experience I have ever gone through. I am very happy we decided to go through with the amnio; not knowing was destroying my mental health.

Hi all, I wanted to share my extremely weird results maybe someone can find some clarity in this, I haven’t been able to find any experiences with the same results. My NIPT was drawn twice, first time was because of low fetal fraction at 10 weeks then 12 weeks it came back atypical. Genetic counselor said there were multiple markers on multiple chromosomes. Baby seems healthy other than 3.2 NT scan at 13 weeks 4 days. Genetic counselor and OB both think that I could be the reason of the markers and baby could be perfectly fine. They want me to do a study to check e for cancer because it has happened in the past that multiple markers appear when the maternal factors in. I had a CVS done 2 days ago and should be getting FISH results tomorrow. Any input or feedback? Freaking out and truly am lost.

Update 08/07- FISH results came back normal! Baby is healthy so far! Waiting for the more in detail results in two weeks but the rapid ones are good and found out we are expecting a baby girl :)

Update 08/18- our genetic counselor called us back with the full Karyotype of the CVS and gave us some really gutwrenching news of 50% of the cells that they test tested came back positive with T21 and the other 50% were completely normal so they sent me for an amnio at 16 weeks which was Thursday, August 20 and I should be getting a FISH result on Monday but seeing how the last one resulted with the CVS I feel like is really pointless to feel confident with a clear rapid result and we just have to wait for the full karyotype in two weeks. The babies NT was measuring 2.2 at 15 weeks five days and that was reassuring and they said that her scans look good except for a light in her heart, but they referred to that as having like a mole that it’s nothing to worry about but everything else looked really good feeling very worried, very anxious and completely and disastrously emotionally exhausted to say the least, I feel like I’m crying and just paralyzed and fear and thoughts and incessantly referring to Reddit for other community posts and trying to find similar experiences. Hoping for any feedback good or bad while we wait for these results to come in, which seems like a never-ending nightmare.

Update 08/24 - we got a callback from her counselor this morning about the FISH results and she said that they came back “normal”, now this obviously gave some sort of hope but seeing as the CVS rapid results came back normal as well and then we got hit with the full results of it being 50% T 21 and 50% normal. We’re kind of just waiting for the other shoe to drop with the full results. She said that a FISH result that indicated any kind of T 21 cells if it’s under 20% then it would be non-reportable and which just come back normal. So we don’t know if there are any cells in there. They just can’t report on it until the full karyotype comes back in the next 10ish days. If there’s any feedback or some other stories, please share, we are emotionally exhausted.

I just got my NIPT testing back, and the results came back with “Data from testing this sample failed to meet quality standards for interpretation because aberrant findings were observed for multiple chromosomes. Similar data has been associated with maternal neoplasia (Turriff et al, NEJM 2024). Redraw is not recommended due to the expectation that the same results would be seen reproducibly.
Genetic counseling and clinical correlation are recommended.”

It also had a result in a separate place that said trisomy 21, 18, and 13 was negative. I am going to be doing additional labs and testings, but I was just curious if anyone else had these results?

in hdac4 deletion exoms 4-8 and mmachc both heterozygoteus but have disorder even mmachc is probably active. is there possible to not absorb vitamins from group b? also is is krebs cycle the same test as gas chromatography wit method I dont remember but I think it was 3letter word ngs maybe? and what krebs cycle test shows? is it really that rare. is it calculated or usually mistaken for multiplevsclerosis. I checked in dictionary so not sure. what is real number of it occurence. it differs from source.

Hey there everyone lm an 18 year old male and from childhood l have pretty high blood cell count my hemoglobin is always above 18 usually 19 and hematocrit levels are usually in 54 zone I did a full bloodwork panel and they were normal besides these 2 results and l have never smoked and never took any performance enhancing drugs. I will took an EPO test tomorrow and after that l will do the gene test what are the chances of getting this genetic disease and how to treat it if its possible

Hello

Both of my daughters have chromosome imbalance of 1p13.3 duplication. Both have autism although youngest has more material and has complex needs.

Looking for people for advice and similar results as its extremely rare.

Thank you

Recently had an issue come up where both of patient's parents are half Venezuelan, but only due to patient's grandfathers. Both of patient's grandmothers are not Venezuelan. Presumably patient could not inherit Venezuelan mDNA from mother, but policy is still requiring patient to pursue testing which caused them to have to cancel their procedure due to timing. How would you all have handled this situation? Is there any leeway in your policies?

Hi everyone,
I'm trying to understand our next steps with our baby's long bones and if we should move forward with whole exome sequencing. 

At 20 weeks:
-BPD: 31%
-HC: 13%
AC: 37%
Femur: 4%
Humerus: 7%
-FL/AC: 19.4%
-EFW:12%

At 24 weeks:
-BPD: 34%
-HC: 17%
-AC: 60%
-Femur: <3%
-Humerus: 10%
-Radius, ulna, tibia, and fibula all ~<3%
-FL/AC: 19.2%
-EFW: 23%

normal mineralization
no fractures
no bowing
no bell-shaped thorax
no major skeletal abnormalities elsewhere

Testing so far:
-Normal NT scan at 13w
-Low risk Vistara
-Normal microarray
-Waiting for karyotype testing

I am strongly considering going forward with WES. Has anyone been in a similar situation? Did you do WES testing? What did it find, if anything?