Can WikiTree coding be modified to allow Y-111 test from 47,XXY identified as female?

Question

I do indeed have full FTDNA Y-111 test results which would confirm my Bell paternal line as R-L1, and the markers have been uploaded to Ysearch.org. Yes, I am 47,XXY but unwilling to begin labeling myself as "male" just to get around the program. I suppose a category of "other" or "mutant" would be good enough. ;)
- Julia Lansberry, nee Bell

Comments

Hi Julia, I just added a few more tags to your question so that more people involved in technical issues on the site will see it.

---

Would a women know if she was XXY and thus could take the yDNA test, if not, how did you discover the XXY and know to test?

In the meantime, as a workaround, why not put the test on your dad and add a comment to his profile that it is really your test but due to technical limitation, it is placed on his profile at moment.  You probably need to edit him to be living temporarily to add the DNA, then can mark his death again.

---

When you send in for a 23andMe kit one of the things they do is a karyotype test. Karyotype tests are the standard way to identify 47-XXY, 46-XX, 46-XY, and other chromosomal conditions.

Generally going forward, genetic tests for ancestry or personal genomics will likely include the basic information of at least whether you have an X or Y chromosome if not how many.

As far as I am aware, chromosome conditions other than 46-XX and 46-XY are collectively about as common as red hair globally.

http://www.isna.org/faq/frequency

http://www.who.int/genomics/gender/en/index1.html

Answer 1

Since gender identity and genetics don't always match, whether a person's gender is determined by their genetics, their dominate sex organs, the doctor that witnessed the birth or through a person's own self-identification of their true gender, WikiTree should, at the very least, support the genetic identity as much or more so than a person's assigned gender.

Having a gender identity for genealogical purposes (male/female) follows the traditional genealogical structure, but it would be apropos for WikiTree to provide a field on the DNA testing page that identifies a person's genetic identity. If the ability to enter Y DNA tests has to be gated (why? to prevent a bad upload of data? this seems unnecessary as nothing prevents a bad auDNA/mtDNA upload in this way), then the gate should be on genetics not gender identity.

A new field on the DNA testing page that is a drop-down that is auto-populated from the gender field on the profile (male=XY, female=XX), but allows someone with more genetic information to select more specific genetic identification such as XXY would be beneficial and set WikiTree apart. The genetic testing upload availability could then be based on this field rather than the gender field (if that is truly necessary).

Of course, the easiest solution would be to remove the gate that prevents a female from upload Y DNA. :)

Answer 2

John Bell (Bell-8319) is the father of two children and has a Y chromosome.  If you want to associate this Y chromosome result with the direct paternal line of Bell-8319 then you should select male for Bell-8319.  In your profile state the situation and that you don't identify as male.

Comments

To clarify, she means that she took the Y-DNA test. Currently WikiTree doesn't allow women to add Y-DNA tests because the system assumes that women don't have Y chromosomes. But in this case, she does have a Y chromosome and should therefore be able to add the test to her own profile.

(Sorry if you understood that already; I couldn't tell from your answer.)

---

Someone who is XXY has a Y chromosome.  Bell-8319 is listed as the father of two children.  I understand that someone who is XXY may identify as female.  Some males who are XY identify as female, but from a biological perspective, having a Y chromosome makes them male.

---

Bell-8319 is the ancestor, not the one with the test. Bell-8318 is the test-taker, and is female.

I don't see how saying Y = male is any more accurate than saying XX = female.

---

Sorry I saw "WikiTree profile:John Bell"  in the original question which linked to Bell-8319 and I assumed John Bell was the test taker.

In human genetics persons who are XX are female and persons who are XY are male.    Also persons who are XXY and XYY are male.

 

---

I understand you're looking at this from a purely genetic standpoint, and get what you're saying. But I have issues with the gender field on a profile (which is called gender, not sex) having to be filled in incorrectly (which Julia said she is unwilling to do) to make WikiTree features work. I think we should be trying to find solutions to these questions.

---

Yes, I'm Bell-8318 and of course am the one whose DNA has been tested. My father died in 1975 and my brother in 2012, so I'm the last of this line and felt drawn to learn and document what I can as something of a memorial to them. So, as a result of testing we now know that the lineage back to Walter Bell (1712-1758) is R-L1 or in long form, R1b1a2a1a1c1a2a (ISOGG 2014).

Thus far it has been much easier to identify shared ancestors on my mother's side. I've seen inquiries about my Bell line posted on various message boards, but the questioners also seem to have passed away over the years. Anyway, I have managed to convey the essential information elsewhere, so perhaps just better to let it go at this point. Thanks anyway.

---

Self-identifying females with Y chromosomes are rare enough that this doesn't warrant changing WikiTree code right now. There are too many other high demands on our limited resources.

If it helps we can put in the style rules that gender is gender at birth. Between this and full explanations in the text of the page, as Peter notes, I think most people should be satisfied. There are plenty of situations where the data fields have limited and full explanations are the only work-around.

To be clear to anyone reading this: We are not talking about a situation where a female genealogist has a male member of their family take a yDNA test. With all DNA tests, they should be entered for the person whose DNA was tested, not for the individual administering or entering the test.

---

Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. https://en.wikipedia.org/wiki/Klinefelter_syndrome

Answer 3

As this has come back up to the current G2G discussion I would like to take the opportunity as a physician to emphatically reject the notion brought up in this thread that if you have a y chromosome you are male. Besides the situation that caused the original question there are situations due to ambiguous genitalia where sex is assigned rather haphazardly irrespective of the genetic make-up. In addition there is a condition called Complete Androgen Insensitivity Syndrome  where 46,xy individuals are phenotypically completely female. If anybody wants to convince themselves of this here are pictures from a medical textbook.

Comments

Has a person with Complete Androgen Insensitivity Syndrome ever given birth?

---

Women with CAIS do not have uteruses and ovaries and are, therefore, infertile. But if the ability to give birth is the defining criterion for who is female it follows that the ability to father a child is defining for being male and that would make every male with cystic fibrosis what exactly?