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

[gemjoy]

to you & your family!

The internet is not the best place for medical info.

I'll second that sugarpie!!! Although when you are in need of answers it's so hard not to go to the internet for anything you can find out... not always good. When my DH was diagnosed with cancer the Dr. flat out told me not to go online - he said it's confusing and scary. But I didn't listen...

 

[kimmikayb]

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.

I believe they see the counselor when these blood tests come back. You know how it is.....you worry to death waiting for results. Last night, I only knew an extra chromsome. Today I learned it was on the 23rd pair so that helps refine a search. Hopefully we'll know more on Monday.

 

[sugarpie]

I'll second that sugarpie!!! Although when you are in need of answers it's so hard not to go to the internet for anything you can find out... not always good. When my DH was diagnosed with cancer the Dr. flat out told me not to go online - he said it's confusing and scary. But I didn't listen...

A lot of doctors are specifically telling patients not to look up their illness/diagnosis online. There's so much bad info out there. I should know better, but I do the same thing.

 

[Frantasmic]

YO (Y, missing X), YY, or YYY

Of these, isn't only YO even possible? (Normal XY male and unsterile XO female)).

The others just can't occur, right?

 

[sugarpie]

I believe they see the counselor when these blood tests come back. You know how it is.....you worry to death waiting for results. Last night, I only knew an extra chromsome. Today I learned it was on the 23rd pair so that helps refine a search. Hopefully we'll know more on Monday.

Good. It sounds like they already know the baby has the extra chromosome so the tests are probably just a formality. They'll find out more about the possiblities & their options when they see the counselor. What a long weekend it will be for them.

 

[The Mystery Machine]

My dd was tested for Turner's Syndrome prior to her getting her growth hormone therapy.

Obviously if it is Turner's Syndrome it does mean infertility however....with the advent of synthetic growth hormone, it can mean that the child can grow normally in some cases.
I think Turner's is short stature, infertility and lack of sexual development....but they know so much more and can help now.

I will think good thoughts for your family!

 

[jenm2878]

My friend has an extra 23rd chromosome. I think instead of being XY he is XXY. What he has is called Kleinfelter's syndrome. (sp?) He has to take hormone shots and some other sort of shots regularly but he's absolutely fine otherwise. (He's also about 6'6" and is rarely sick)

ETA: He is also infertile, but I think that's the only real "issue" he's had.

 

[tar heel]

One of my children has a close friend who has Turner Syndrome. She appears perfectly normal and is very bright.

 

[ElizaB39]

I know a woman who has Turner's syndrome and is also considered a Mosaic (not sure what that means). She has 6 daughters. Her Drs. told her she would never have children. When she had her first, she was told it was a miracle and would never happen again, they kept telling her that after each child. She did go through early menopause (before age 35). And, well... 6 beautiful daughters later...

She is in textbooks and the whole 9 yards.

I realize she is an exception, just wanted you to know her story.

 

[phillybeth]

Turner Syndrome would be XO- in other words, a missing X chromosome, not an extra one. So this baby does not have Turner Syndrome.

Since you know the baby is a girl and she has an extra chromosome on the 23rd pair, that means she is XXX, or triple X (also called superfemale).

http://ghr.nlm.nih.gov/condition=triplexsyndrome

What is triple X syndrome?
Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of one extra X chromosome in each of a female's cells. Most often, this chromosomal change causes no unusual physical features or medical problems. Females with triple X syndrome are sometimes taller than average and have an increased risk of learning disabilities and delayed speech and language skills. Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected girls and women. Most females with triple X syndrome have normal sexual development and are able to conceive children.

How common is triple X syndrome?
This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple X syndrome are born in the United States each day.

Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of 46. It remains uncertain why an extra copy of the X chromosome is associated with tall stature and learning problems in some girls and women.

Can triple X syndrome be inherited?
Trisomy X usually is not inherited, but occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes.

Bolding is mine.

 

[ElizaB39]

Thank you PhillyBeth, I did not intentionally post incorrect information. I am sure the OP and her family are inundated and good, accurate information is needed. Good job and thanks.

 

[phillybeth]

Thank you PhillyBeth, I did not intentionally post incorrect information. I am sure the OP and her family are inundated and good, accurate information is needed. Good job and thanks.

Didn't think you did! I'm a geneticist- not a counselor, but I do forensic DNA, so this stuff is second nature to me.

And your story is a great one- proof that docs don't know everything, and people shouldn't limit themselves, or allow themselves to be limited, because of a diagnosis or 'label'.

 

[The Mystery Machine]

Didn't think you did! I'm a geneticist- not a counselor, but I do forensic DNA, so this stuff is second nature to me.

And your story is a great one- proof that docs don't know everything, and people shouldn't limit themselves, or allow themselves to be limited, because of a diagnosis or 'label'.

Wow great explanation. After what you said it doesn't sound so bad.

Very interesting about height...as a sidenote.
XXX could be very tall and XO is short stature.

 

[kimmikayb]

Turner Syndrome would be XO- in other words, a missing X chromosome, not an extra one. So this baby does not have Turner Syndrome.

Since you know the baby is a girl and she has an extra chromosome on the 23rd pair, that means she is XXX, or triple X (also called superfemale).

http://ghr.nlm.nih.gov/condition=triplexsyndrome

What is triple X syndrome?
Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the presence of one extra X chromosome in each of a female's cells. Most often, this chromosomal change causes no unusual physical features or medical problems. Females with triple X syndrome are sometimes taller than average and have an increased risk of learning disabilities and delayed speech and language skills. Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected girls and women. Most females with triple X syndrome have normal sexual development and are able to conceive children.

How common is triple X syndrome?
This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls with triple X syndrome are born in the United States each day.

Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of 46. It remains uncertain why an extra copy of the X chromosome is associated with tall stature and learning problems in some girls and women.

Can triple X syndrome be inherited?
Trisomy X usually is not inherited, but occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes.

Bolding is mine.

Thank you phillybeth....I'm wondering do you know why they are testing the parents? My SIL is really holding to hope with their blood tests but from I'm reading here doesn't sound like it matters.