FAQ - chromosome aberrations
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Is Klinefelter recessive or dominant in a particular chromosome?


question for my project that i don't understand.
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Klinefelter is when there is an extra sex chromosome...XXY the offspring is usually an infertile male. It occurs as a nondisjunction during meiosis. It's neither recessive or dominant but a mutation.  (+ info)

What genetic disorder, which is a disorder of chromosome 15, celebrated its national awareness week during the


last few days of April and the first few days of may? end of the question over here. ^_^
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Autisim?  (+ info)

how would a blood test find a male y chromosome in a females blood after she received a kidney transplant?


she was an eighteen- year -old and she received a kidney transplant and stem cells from her brother. A year later she had a blood test done and they found a male y chromosme. How would this happen?
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Stem cells make the blood cells. The stem cells have the brother's DNA, including the XY chromosomes in them. So, her blood would end up with blood cells containing his DNA and sex chromosomes. It is highly unlikely the source of the Y chromosome is from the kidney.
I  (+ info)

Does anyone know where to find the chromosome that affects PKU?


i've looked everywhere and I can't find an actual photograph of the chromosome affected by PKU (Phenylketonuria). this is for a science project.

Thanks so much!
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The gene that causes PKU is called Phenylalanine Hydroxolase (PAH). This gene is located on chromosome 12, which essentially looks similar to every other choromosome :).

Here are some links for pictures I found:

http://cnx.org/content/m15083/latest/01%20Human%20Chromosome.JPG

http://genome.wellcome.ac.uk/assets/WTD023444.jpg

http://jama.ama-assn.org/content/vol297/issue15/images/medium/jmn70032fa.jpg  (+ info)

Does any one know which chromosome that Tourettes Syndorme is linked to?


I'm doing a school project and cant find the answer. Please give me the e-mail address or how you found out the answer so i can site it in my bibliography. THANKS!
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" In a paper published in the October 14, 2005 Science magazine, (a publication of the American Association for the Advancement of Science), Vol.310 (#5746) pp 317-320, findings were reported by a team led by Dr. Matthew State, Assistant Professor of Child Psychiatry and Genetics, Yale University School of Medicine and Child Study Center. Pursuing genetic analysis of one boy with TS with a known chromosomal abnormality, the group was able to pinpoint a gene (SLITRK1) on Chromosome 13 that is associated with some forms of TS. This gene is expressed in several areas in the brain—specifically the cortex and basal ganglia—the same brain regions previously implicated in causing TS symptoms. When functioning normally, this gene is involved with the growth of neurons in these regions. In other affected individuals, two additional rare abnormalities in this gene were identified."

From http://www.tsa-usa.org
click on ""medical" for more information  (+ info)

Can you explain how a disease passes through a defect in the X chromosome?


I'm trying to understand better how hemophilia is passed down genetically.
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The gene for hemophilia is located on the X chromosome. All of your Xs must have the bad gene to develop the disease. Males have an X and a Y chromosome, so if the X has a bad gene, they get hemophilia. In females, two Xs and no Ys are present. They must inheret Two bad genes (instead of one) to get the disease. That's why there are so many more males with hemophilia. Color- blindness works the same way.  (+ info)

Is it true that women live longer than men because they have an extra X chromosome?


I heard the second one is like a backup to the first. Is that true?
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I don't know why but yeah -- women are supposed to live up to 5 years longer than guys do. (but i think they are catching back up now...)
I always thought it was just because in general we're supposed to live more healthy...
and besides all the shit we have to go through (periods, pregnancy, menopause, shitty gr.8 year... and constant pressure to be thinner, skinner, and prettier...) you know all that shit, it makes sense we gotta have something better than you guys....

haha yeah thats my reasoning lol  (+ info)

How can i tell if i am an intersex (xxy chromosome )?


I have some things that wikipedia states about the intersex , aka third gender , but i have a male reproductive organ only . So how do i know without looking for a doctor . What symptoms can i identify on my own
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The XXY Karyotype is known as Klinefelter's Syndrome. The penis is usually of normal size, but the testicles will seem disproportionately small. Excess breast tissue is common, lack of facial and body hair can also occur (although not always). The arms and legs are usually very long in comparison to the rest of the body.

Most people never know they have the extra X chromosome. Sometimes they will be infertile, but not always. They are still male, the body just produces excess estrogen due to the extra X chromosome.  (+ info)

Is it possible for a baby to be missing more then one chromosome from the normal 46?


I know that a baby can be missing One chromosone, resulting in some form of deformity depending upon which chromosone. But do not know if it is possible for a baby to be missing more then one.
I am taking a class and it was disscussed in our class that each parent gives 23 Chromosones when creating a baby .. so the baby ends up with a total of 46 chromosones. Missing a set depending on which one results in a disorder/deformity of some kind. What i want to know can a baby be missing more then one ?
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In some very rare cases, males may have three or four X chromosomes instead of the usual XY. (47,48, etc) Those boys who have one of these less common chromosome arrangements will show exaggerated features of Klinefelter syndrome and mental retardation may be present.
And yes, it is also possible to have 44 chromosomes.  (+ info)

If a woman 5 months pregnant just found out her baby has an extra chromosome what does this mean?


I don't know specifically, I know nothing about this stuff. I jsut know she just found out there was an extra chromosome. And alos the baby has a heart defect and may be down syndrome. Are there all different types of extra chromosome defects?
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Yeah there can be different chromosomes that are affected. It depends which one is there an extra of. Heres some examples I got off a sight. Hope that helps out and hope everything turns out fine. My prayers are with you!

The perfect number of chromosomes for humans is 46. We have 46 chromosomes in almost
all of our cells - that is, 22 pairs of autosomes, numbered 1 through 22, plus the two
sex chromosomes, called X and Y. Normally, females contain two X chromosomes in their
cells in addition to the 44 autosomes. We describe female chromosomes as 46,XX (46
including 2 X' s). The cells of a male contain an X chromosome and a Y chromosome plus
44 autosomes; we describe their chromosomes as 46,XY.
Can a person survive with too many or too few chromosomes? Since the chromosomes contain
genes that are needed for our growth and development, it makes sense that we cannot grow
and develop successfully if any chromosomes are missing.

Only in the case of the X chromosome is it possible for a person to survive with a missing
chromosome, even though the X chromosome is a fairly large chromosome. Considering that a
normal, healthy male can manage with only one X chromosome (and a Y, of course), it is not
surprising that a woman with only one X chromosome may be able to survive at all.

A person with only one sex chromosome, an X, will be a female with Turner syndrome,
perhaps the mildest of all the chromosome abnormalities. We describe her chromosomes
as 45,X (meaning that each cell contains 45 chromosomes, including one X chromosome).
Even with Turner syndrome, most pregnancies will not continue to term but will end in
a miscarriage - only some will survive. The symptoms of Turner syndrome are quite
significant for those who have to live with them.

A person with only one Y chromsome (45,Y) could not survive or be born alive. The X
chromsome ahs important genes on it that would be completely missing in such a person.

As to why it is harmful to have an extra chromosome, this is harder to understand. If
chromosomes are good, wouldn't additional chromosomes be even better? The answer is no,
they would not. The genes on the chromosomes are needed in exactly the correct amount in
order to work correctly. (As with medicine, you need the right dose!)

Many genes cause the cell to make proteins of various kinds, and these are needed in the
correct amounts. Some genes function by instructing other genes to turn on and off at the
right moment, and these instructions need to be precise, accurate and sensitive. Having an
extra chromosome is like having a business with too many managers or a family with too
many parents or a car with two drivers or a country with two presidents, perhaps giving
contradictory instructions.

The smallest of all the chromosomes is chromosome 21. A person who has, not two but three
copies of chromosome 21 has Down syndrome, a well-known form of mental retardation.

Are people ever found with other extra chromosomes besides chromosome 21? Hardly ever.
Those babies who are born with extra copies of larger chromosomes may not survive for
long; they have many different health problems and birth defects.

Once again, the exception is the sex chromosomes. It is possible for males to survive with
two Y chromosomes (47, XYY instead of 46, XY). It is also possible to survive with an
extra X chromosome - 47, XXX females (triple-X syndrome) and 47, XXY males (Klinefelter
syndrome).  (+ info)

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