Hi, I'm looking for help understanding microarray results for a miscarriage of a euploid PGT-A tested embryo. I am not looking for medical advice. I met with a genetic counselor today, but didn't really get an answer to this one question and won't get the opportunity to ask it again - the question being, "Had it not been for other, unrelated personal infertility factors, would a baby with this microarray result have been born healthy?" Below is a copy/paste of the report I received. I understand that it says it wasn't likely the case of fetal demise, but I'm unable to figure out if an autosomal recessive gene deletion as described would have definitely/likely/maybe/etc. resulted in some sort of genetic condition at birth. Thanks in advance!

MICROARRAY RESULT: 23 KB INTERSTITIAL DELETION OF 14Q31.3->Q31.3

INTERPRETATION: FEMALE WITH AUTOSOMAL RECESSIVE GENE DELETION

arr[hg19] 14q31.3(88,399,623-88,422,853)x1

The whole genome SNP microarray (Reveal) analysis has detected a female with an interstitial deletion of the chromosomal segment listed above.

This interval partially includes OMIM gene GALC that has been associated with autosomal recessive Krabbe disease (OMIM: 245200, see reference). Autosomal recessive conditions have a clinical effect only when both alleles are abnormal. The analysis showed no evidence of a homozygous deletion, although a sequence variant below the resolution of this assay is possible. This copy number loss is unlikely to be the cause of the fetal demise. In order to determine a parental deletion carrier, parental analysis may be considered.

Simplified question:

You have a bag of 100 marbles. You randomly select 50 marbles from the bag, and then return them to the bag. You again randomly select 50 marbles, and then replace them etc. How many times would you have to select 50 marbles from the bag to have a 95% confidence that you have selected at least 95 percent of the marbles at least one time.

The concept

I have been wanting to know the answer to this question for a while, and I would like to understand how to solve it as well. I am considering this problem as to how it relates to genetics. One of the main questions I have had for a while is: when you make a cross between parent A and parent B, how many progeny are necessary to keep to capture 95 percent of the genetic diversity of parent A only, with a 95% confidence. I.e. each progeny carries 50% of the genetic diversity from parent A, and each additional sibling from the same cross will carry a different assortment of that 50%. I am only interested in capturing at least 95% of the genetic variation from parent A and I want to maintain the fewest number of progeny, while still having a high confidence (95%) that I have been successful without sequencing each of the progeny.  

Can we copy or create same dna(same egg or sperm) to choose how be our baby appearance ? Is there scientific issues ? or political?moral issues?

Hi everyone!

I am of Middle Eastern background (specifically peninsular Arab, from the gulf, I am full peninsular Arab) my dad’s mom (paternal grandma) is Egyptian and my mom’s mom (maternal grandma) is Syrian.

My aunt (mom’s sis) is married to an Egyptian man. Her daughter who is Egyptian (my first cousin) got married and gave birth to a healthy daughter (her first kid), however her second kid (son) has albinism, and 3rd daughter is healthy. Doctor said it’s because both her and her husband have the gene.

My cousin or that side of the family are being kind of snarky about the whole thing, and are being selfish. They are saying, if you want to know, go get tested yourself, why would we care. It was offered to them!! They refused to do further testing as to what side of the family this gene is from (our side) or her dad’s side.

I am now pregnant with my first child and I am worried. Please explain this whole thing to me like I am a 5 year old. What are my chances?

I only know my side of the family and we have no history of any genetic issues (I apologize if this is the incorrect word to use). However, her side of the family is so small that I am unaware to make a correlation to all of this.

I just want to know where I stand here.

If an albino POC conceives with another POC, would their baby have a blended complexion? I’ve always wondered about this and even searched it up on numerous occasions (with no luck 💀)

I have similar curiosity with other genetic conditions too. Like if an individual with Down syndrome conceives (presumably a child without Down Syndrome), would their child still inherit some physical characteristics associated with the condition?

Been in a discussion with my parents about this and just want to make sure that I'm not spewing BS.

1. the Y chromosome is passed essentially unchanged from father's to sons (outside of any replication errors along the way)

So me (m) with 3 boys, my kids share none of my mothers DNA as they have an X from my wife's genetics. I have a bio brother who just had a baby girl and I made the comment that my mom's genes get to live on. Comment was not well received and everyone is convinced I'm wrong.

2. getting into siblings, as long as the full siblings are same sex, then those siblings share an identical chromosome from Dad? The X they get from mom is the blender version of her two X chromosomes? So as long as siblings are the same sex they should share 75% DNA. If they are opposite sex it would only be 25%

I'm pretty sure I've got this right but would love clarification if I've buggered it somehow.

If two siblings were to marry two first cousins, their children would be both first and second cousins. What percentage of the children’s DNA would be shared, compared to if they were only first cousins?

I don’t know if this is an easy question to answer. My mom was the same and so was most of my family on her side. Though her hair was a lighter brown than mine. My dad has black hair and has always had black hair. I was probably around 9 or 10 when my hair could stop being considered blonde to any capacity. I am mostly northwestern European but I do have a bit of southern European as well. If you need any more information I am willing to give it.

I was assigned male at birth but showed multiple symptoms of being intersex that weren’t of medical concern. Anyway I ordered a test from sequencing.com and it shows that I have a Y chromosome, but the majority of datapoints are absent (not even no-calls, it reads as not tested). 7/8ths of the annotated datapoints are missing. It appears that there is no PARS regions, only sex-formative regions (including areas other than the SRY gene). I assume that if I was SRY-positive XX I wouldn’t have these other genes, and the X pars region would just be mapped as a similar Y pars region.

I’ve been trying to email sequencing for over a month, but have not had any success with a serious response. I’ve talked to my doctor about karyotyping, but he won’t refer me without serious medical concern. Does anyone have an idea of why this would be?

Edit: I did the math and I have 3,501 lines in my raw data for Y -including 414 no-calls (a search shows 2083 labeled rs and 1421 labeled i) ‘missing’ data is not visible in the raw data

Like in the future; is it even remotely possible to

•Enhance favorable traits (Make people taller, smarter, better looking)

•Give us additional traits (Wings, Gills, New organs)

Are there any hard limits on what can be altered or enhanced?

I just finished my master in animal sciences with a specialization in molecular genetics, it was really fun and I enjoyed it later on after getting past the initial phase of head scratching. now I'm thinking of getting a PhD in molecular genetics to further understand the world of genetics and probably be the next dexter (dexter laboratory), because in these part of the world molecular genetics is still emerging and it's at it infancy. Along the way I've been able to identify how molecular genetics could improve animals in this part of the world but a lot of these techniques needs to be outsourced to lab solutions companies in other countries, which can be really infuriating to someone who is very curious about these things, because I'll like to own a genomic lab which would work in improving livestock and wildlife in my country. Which had lead me to ask the following.

1. Which countries has the leading technologies and experts in the field of molecular genetics.
2. How do I go about applying for scholarship in those countries.
3. What are some requirements necessary for someone going about that process.
4. Is applying for a PhD the right step towards attaining a goal like that.

Thank you.

Hi! So I am 100% European, almost exclusively of English descent, and my partner is 50% Papua New Guinea through his mother (his father is of European descent, dark hair dark eyes). Technically that part of his DNA is "melanasian". As a result, he has inherited the darker skin of his mother but with red hair. His brother is also blonde, but his other brother and sister are dark.

I was doing some idle reading and learned that the people of PNG often have blonde hair, however it is due to a different gene than European blondeness. Presumably for my partner to have red hair, and his brother to be blonde, he carries the PNG blonde gene?

Now, I know nothing about genetics, but I am curious as to what that means for our children, as we are pregnancy planning. My father comes from a family of blonde haired blue eyed people, so I have those genes, but inherited my mother's dark hair and eyes (although I did start white blonde).

With my blonde genes and my fiance's blonde genes being "different genes" (as I understand it), would this mean I'd have a higher or lower chance of blonde children than if I married a European man who carried the typical blonde gene?

And yes, as far as we know all our parents are actually our parents 😅. And obviously whether our kids are blonde, brunette, redhead, or dark or light skinned, we will love them regardless. I'm just curious about how this blondeness works.

An example, there's two people with the exact same genes, same gender but one is 5'6 with blue eyes and curly hair and the other is 6'2 with brown eyes and straight hair. I know it is extremely unlikely for this to happen in the first place.

Obviously I know things like malnutrition, exposure to various substances and ambient radiation would make a big difference in phenotypes but aside from that.

Hey everyone! I recently graduated with a degree in Medical Laboratory Science, and there's something that's been bugging me ever since I started learning about blood types.

My mom is O+ and my dad is AB+, but I'm O+. I know for sure they're both my biological parents—we've been doing blood typing regularly for years because my parents are required to have medical checkups for their jobs abroad. There's definitely no mistake with the tests. I even confirmed my own blood type multiple times during my internship using both gel and manual methods, and it always comes back as O+.

In my studies, I learned about the cis-AB blood type, which seems like it could be the answer. I'm also Asian, and I know cis-AB is more common in some Asian populations.

Does anyone have any insights into this? Could it be cis-AB, or is there something else going on?

Also, if I ever need a blood transfusion (hopefully not), or if I donate blood, do I need to tell anyone about this? Can I just receive O+ or O- blood like anyone else with my blood type?

Thanks in advance for any help!

I have heard of this theory in evolution for a long time, that the human chromosome 2 is actually the product from the fusion of two distinct chimp chromosomes. But has any people ever tried to replicate this "head-to-head fusion" process in the lab? If you combine two chromosomes by head-to-head fusion, can their product maintain all the functions of the two chromosomes? Are all genes in the two ancestral chimp chromosomes still active in the human chromosome 2?

Looking into starting a genetic counselor program and trying to get familiar with all the tools and researching a few different conditions that have impacted my family. When a condition is listed on the NIH SNP database or ClinVar for a genetic variant, does that mean someone with that condition had the variant?

Hi everyone! I had my original genetic test done back in February with two VUS results in the NF1 gene ( I’ve been clinically diagnosed since 2003) and the BRCA2 gene. Today I got a call to make an appointment for a follow up call with my genetics counselor. The scheduler didn’t know why other than that she had some “additional information” for me and that it was nothing “immediately bad”.

I was just curious to see if anybody else had changes and/or updates to their results and could provide insights as to what they could’ve found. I have bad anxiety and my follow up isn’t until next Friday :)

I have Steatocystoma which is a rare mutation of k17 gene. I recently had to end a pregnancy due to cystic hygroma. Is there any chance is because I have passed this down to my baby? It is only a skin disorder and doesn’t cause any other symptoms but not sure if a single gene would cause cystic hygroma

(Screen shot from another post I made)

I don’t know a lot about genetics but it’s something that caught my interest lately

Hello,

Does anyone know of companies or institutions that specialize in sequencing really low concentrations of DNA? Low being betweeen <1 to 3 ng/uL. Or are there types of sequencing that would be able to get some information out of the samples without the reaction failing?

Thanks in advance!

Edit: Whole genomes sequencing and the volumes are 50 uLs for each sample.

Hi everyone,

I’m reaching out to this community to gauge the interest in comprehensive information resources about genetic diagnostic testing.

I work with a company called LabCapital.org - where we are focused on developing such resources.

Our objective is to assist individuals in gaining a deeper understanding of their disease or condition and to guide them through the available testing options. Believing that current information on genetic tests could be beneficial for both patients and healthcare providers.

I’m very interested in hearing from you about how these resources might be helpful. What other information might be useful? How do you envision genetic data could be leveraged to improve the diagnosis, treatment, and overall management of genetic disorders?

Your feedback would be incredibly valuable in helping us tailor our services to better support those dealing with genetic diseases.

Thank you so much for taking the time to share your insights!

I have a naturally husky/raspy voice even though none of the women in my family sound like me. Both my grandmas sound very sweet so i don't think even they sounded like me when they were young. Now google says our voices are genetic unless you smoke or drink, which i don't. So is it a possibility that i inherit my voice from my great grandma or any of my ancestors? since i kinda remember criss cross inheritance taught in biology class in school.

Does anyone know what this means? I can't find information online. This was the results from some genetic testing I got done during pregnancy

There's a study which says autosomal DNA tests from direct to consumer companies like 23andme / Ancestry have a 40% false positive rate: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301953/

That's quite a high amount of inaccuracy. I'm aware that 23andme was told by the FDA at one point to stop offering health reports (like those with the BRCA gene) because they had to get FDA approval for this.

Now, how exactly did they improve their methodology to get FDA approval if their platform itself gives inaccurate RSIDs which are not clinically acceptable?

Also how does a website like Sequencing also offer health reports without being FDA cleared, even though they're based in the US?

So, let me explain:
Currently, I'm a computer science student, and recently, partly due to personal issues, I discovered that I love genetics. Obviously, my knowledge of life sciences is limited to the basics of biology that I learned in high school and also in internet. Recently, I've started reading scientific articles and books on cellular biology, and I even found online courses on cellular biology to begin with.
My question is, with my studies in computer science, is it possible to do a PhD thesis that touches on genetics? And if so, could you provide some examples?

Sorry in advance if this question has been asked many times on this forum, and thanks for your responses.

I hope this is the right place to ask. At an Armenian festival, I received a flyer to donate bone marrow because it is supposed to be exclusive only to other Armenians.

My friends think it must be the general diaspora or part of the Middle East. I would like to understand if the genetic makeup of Armenians means Armenians can only get bone marrow from each other or if this pertains to the general area Armenians come from.

Thanks!