Does anyone know about having an extra chromsome? UPDATE POST #1

kimmikayb

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My SIL just had an amnio and they say the baby has an extra chromsome on the 23rd pair. Can anyone give me a clue what this means? SIL said they are testing to see if mommy or daddy also carry an extra? I didn't know it was possible for us to carry an extra chromsome? She is worried to death and nobody really knows what it means...of course the doctors are being less then helpful.

UPDATE

For all of you who cared enough to respond, thank you so much! Here's what we've found out.....The 23rd pair is short and an extra chromsome has attached to the short side. They aren't sure where the extra came from. Through many tests the doctor have concluded the baby will have Turner Syndrom. They just did an extensive heart ultrasound and have found the heart in perfect conditon!! :cheer2: Next week is a 3D ultrasound for facial problems. However, they feel the baby will be born without anything fatal (I guess trisomy is often fatal? That was a concern at first). After the 3D ultrasound my BIL and SIL have decided not to have any more tests and enjoy the rest of the pregnancy. Again, thanks to all who responded!!
 
Here's what I found...

The 23rd pair of chromosomes, referred to as the sex chromosomes, differ between the sexes. Females have two copies of the X chromosome, one from each parent. Males receive an X chromosome from the mother, and a Y chromosome from the father


Not sure what that means???

Brandy
 
An extra chromosome can cause miscarriage & birth defects.
 
But many people actually are normal & healthy with an extra 23rd chromosome. They may not know they have it.
 

mudnuri said:
Here's what I found...

The 23rd pair of chromosomes, referred to as the sex chromosomes, differ between the sexes. Females have two copies of the X chromosome, one from each parent. Males receive an X chromosome from the mother, and a Y chromosome from the father


Not sure what that means???

Brandy

Yep, I read this too but none of it makes sense to me!
 
Chromosomes come in pairs, so having an extra causes problems. Chromosome pairs are numbered, and there are 23. The 23rd set is the x and y gender chromosomes. I don't know what the ramifications of a 3rd chromosome in the 23rd set are and what complications can arise, but this gives you a starting point for research.

I do know that Down's Syndrome is caused by having an extra 21st chromosome, and there are other rarer and more serious genetic disorders involving other extra chromosomes.

I hope you and your family get the answers you need. Best wishes to everyone!
 
Some of the conditions caused by an extra 23rd chromosome include:

Turner Syndrome
Klinefelter Syndrome
Jacobs Syndrome
Triple-X Syndrome
 
kimmikayb said:
My SIL just had an amnio and they say the baby has an extra chromsome on the 23rd pair. Can anyone give me a clue what this means? SIL said they are testing to see if mommy or daddy also carry an extra? I didn't know it was possible for us to carry an extra chromsome? She is worried to death and nobody really knows what it means...of course the doctors are being less then helpful.

I don't want to alarm you... because I don't know alot about it but my neighbor and her husband had a baby with Trisomie 13 and the baby was born severly deformed and ultimately died. It is extremely rare - but more and more women are having babies with this... It was very sad. Check this link out.
http://www.labcorp.com/genetics/genetic_disorders/trisomy_13.html

I'll keep your SIL in my prayers... and hopefully it's something else and the baby is fine!
 
I have way more testosterone then the normal man :teeth:
 
gemjoy said:
I don't want to alarm you... because I don't know alot about it but my neighbor and her husband had a baby with Trisomie 13 and the baby was born severly deformed and ultimately died. It is extremely rare - but more and more women are having babies with this... It was very sad. Check this link out.
http://www.labcorp.com/genetics/genetic_disorders/trisomy_13.html

I'll keep your SIL in my prayers... and hopefully it's something else and the baby is fine!


Yes, we were very concerned about this but I guess (if I'm understanding correctly) the amnio ruled this out.
 
gemjoy said:
I don't want to alarm you... because I don't know alot about it but my neighbor and her husband had a baby with Trisomie 13 and the baby was born severly deformed and ultimately died. It is extremely rare - but more and more women are having babies with this... It was very sad. Check this link out.
http://www.labcorp.com/genetics/genetic_disorders/trisomy_13.html

I'll keep your SIL in my prayers... and hopefully it's something else and the baby is fine!

Trisomy 13 is a defect on the 13th chromosome. This baby has an extra 23rd chromosome. I misread the OP at first, too.
 
sugarpie said:
But many people actually are normal & healthy with an extra 23rd chromosome. They may not know they have it.

I think that's why they are testing the parents? To see if they carry it. But we won't know until Monday or Tuesday.
 
kimmikayb said:
I think that's why they are testing the parents? To see if they carry it. But we won't know until Monday or Tuesday.

The links I looked at said generally this is not inherited.

Denae
 
▲TopSex Chromosome Conditions
Sex chromosome defects: There are various defects of the sex chromosomes. Normally a man has XY and a woman XX. But the wrong combinations can arise with extra sex chromosomes or missing ones:

Turner syndrome (XO syndrome, monosomy X, missing Y): This should just be called the "X syndrome" because the person has an X, but no second sex chromosome. Such people are female, as there is no male Y chromosome. It is a 1-in-5000 syndrome, involving some relatively minor conditions, but usually sterility.
Klinefelter syndrome (XXY syndrome, also rarely XXXY): a 1-in-1000 disorder where the person is usually male (because of the Y chromosome), but has lower levels of testosterone and may have some female-like features (because there are two X chromosomes), and is usually sterile. The rarer XXXY syndrome may lead to retardation.
Jacobs syndrome (XYY syndrome): The person has an extra Y male chromosome. He will be male and may be largely normal, or may suffer from minor features such as excess acne and may be very tall, and in some cases behavioral complaints such as aggression. Frequency around 1-in-2000.
Triple-X (XXX, also XXXX or XXXXX): These people are females with an additional X chromosome. In rarer cases, there can even be 4 or 5 X chromosomes. They can be largely normal, or may suffer from problems such as infertility (some but not all), and reduced mental acuity. Occurs with a frequency around 1-in-700.
Note that there is no ordering, and XYX would be the same as XXY.

So there are viable combinations: XX (male), XY (female), XXY (Klinefelter), XXX, XYY, and XO (Turner). They all contain the X chromosome. Interestingly, there has been no combinations found that contain only Y: YO (Y, missing X), YY, or YYY syndromes. Not even aborted fetal embryo cells with this combination have been found. It has been suggested that there is something fundamental on the X chromosome that is needed for life.
 
kimmikayb said:
Yes, we were very concerned about this but I guess (if I'm understanding correctly) the amnio ruled this out.

Oh thank goodness! It's so hard to understand all this scientific stuff - I feel for your SIL for sure - she needs some answers pronto!
 
kimmikayb said:
I think that's why they are testing the parents? To see if they carry it. But we won't know until Monday or Tuesday.

:grouphug: to you & your family!

I assume they're seeing a genetic counselor. It's just wrong that they're not being more helpful. They really should be getting information from them. The internet is not the best place for medical info.
 


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