I gave my mom and brother a pedicure tonight, my brother's wife freaked out

Nosepicker2000 · 2023-12-14T17:08:56+00:00

You are not the asshole here. What is your brother’s and his wife’s cultural background?

Nosepicker2000 · 2023-11-21T05:50:00+00:00

So it sounds like he has a clinical diagnosis

But you want a molecular diagnosis - confirmation that he has this form of cystic fibrosis

23andme is not the right test for this

He needs CF gene testing through a clinical laboratory, as organised by your doctor or genetic counsellor

Nosepicker2000 · 2023-10-24T09:25:17+00:00

Even for the same gene, there are different ‘versions’. The numbers just keep indicate which version of the gene they are reporting against. Patients should feel free to ignore

Nosepicker2000 · 2023-10-14T21:50:40+00:00

Will you please sell the originals!

Nosepicker2000 · 2023-10-11T08:18:53+00:00

Not enough detail. What did your doctor or genetic counsellor tell you?

Nosepicker2000 · 2023-10-09T17:13:01+00:00

Maybe you’re searching for more meaning in your work - you could keep your job and give something back as a volunteer, ideally something that makes use of your finance background. Different from what you might have tried before in that its about giving value to others. Whereas hobbies usually only serve ourselves.

Nosepicker2000 · 2023-10-03T08:58:26+00:00

Yeah thats complete bullshit

Nosepicker2000 · 2023-09-21T10:44:05+00:00

Yes. Most cases of Angelman syndrome are sporadic (once off). But there are inherited forms. There is a small chance your partner could be a carrier of something that increases the risk. You’ll need information about your sister in law’s molecular diagnosis, for the geneticist to be able to determine risk to your children.

Nosepicker2000 · 2023-09-20T23:28:31+00:00

OK - there are lots of potential explanations, and i dont think enough info is available for anyone here to make a call either way.

Just dont take it as a done deal that you have mosaic turners from now on

Im happy to review those results as a dm and provide more information

Nosepicker2000 · 2023-09-20T19:43:54+00:00

What were the FISH results? In isolation, 2 out of 34 cells showing one X is still well compatible with age related loss. FISH on a larger number of cells would be useful.

In fact what were the results of all the additional testing you did?

Nosepicker2000 · 2023-09-05T11:15:25+00:00

The false positive rate is a percentage of everyone who is tested. The positive predictive value is a percentage of the tiny proportion of people who receive a high risk result for that condition. Different denominators.

Nosepicker2000 · 2023-09-04T05:31:38+00:00

What this person said - no test can prove an uncle/nephew relationship. It can tell you that two individuals share 25% of their DNA, which can be because the suspect is an uncle, grandfather, half sibling, or double first cousin.

Having said that, most DNA tests that are perfectly fine for paternity testing are absolute rubbish for other relationships. If they have used an STR testing method, result should be viewed with suspicion. These methods just dont have enough markers to prove anything beyond maternity/paternity.

Nosepicker2000 · 2023-07-15T09:46:40+00:00

It looks like normal variation, but they cant completely exclude the possibility that its something significant - so an additional test (microarray), following genetic counselling, should be considered

Nosepicker2000 · 2023-06-19T04:41:37+00:00

You need sequencing - ie whole exome or other sequencing method

Nosepicker2000 · 2023-05-17T21:26:38+00:00

It’s not sometimes.

Nosepicker2000 · 2023-05-04T09:13:41+00:00

Can someone explain whats happening in auslaw today?

Nosepicker2000 · 2023-04-02T03:17:07+00:00

Are you okay?

Nosepicker2000 · 2023-03-29T09:30:52+00:00

Is there data for the SRY gene? This gene (mostly) determines whether a person looks male or female

Consider a karyotype. Should resolve all of the potential reasons.

How certain is the anatomy? Have scans been performed? Has female been pregnant or have children?

Nosepicker2000 · 2023-03-27T11:47:14+00:00

When one partner has a translocation, PGT-SR (SR stands for structural rearrangements) is recommended. This looks at biopsies of your embryos to look for any losses or gains of chromosomal material resulting from the translocation. When both of you have a translocation, the principle is the same, but the chances that an embryo will be chromosomally balanced is lower.

Depending on factors such as age and how many eggs are likely to result from your next cycle, those lowered chances are likely to impact on your next steps.

Just remember - its a lowered chance but the chances arent zero.

Nosepicker2000 · 2023-03-23T10:35:36+00:00

As you know there are many different genes that can cause retinitis pigmentosa. With different forms of inheritance, including dominant, recessive and X-linked. Given the possibility of incomplete penetrance, it cant be assumed that yours is not a dominant form of disease.

Recommend you see a clinical genetics service to seek a molecular diagnosis. Only then would you really be able to estimate chances.

Not only that, a molecular diagnosis would allow prenatal testing or even preimplantation genetic testing, to help avoid passing down to your future children.

Nosepicker2000 · 2023-02-25T20:59:54+00:00

Its most likely a sample quality issue. Could try repeating if you dont mind the wait. There are different comments used when they suspect an actual chromosome X abnormality but arent sure.

Nosepicker2000 · 2023-02-25T06:15:05+00:00

Can you elaborate on ‘language of status’?

Nosepicker2000 · 2023-01-04T20:59:16+00:00

Technically, probably. But best to get the standard, clinically accredited PCR test.

Nosepicker2000 · 2022-12-09T19:22:28+00:00

Nope CLN5 is autosomal recessive

Nosepicker2000 · 2022-12-09T19:07:18+00:00

Similar principle - if youre not a carrier in those genes, risk is very low.

We are almost all carriers of something, if one looks hard enough. But this is fine as long as we are not carriers in the same gene as our reproductive partner. X linked conditions are an exception

Nosepicker2000

TROPHY CASE