FAQ - trisomy
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What happens to other gametes in Trisomy 21 after Meiosis?


According to this picture on the internet
http://www.anselm.edu/homepage/jpitocch/genbio/nondisjunction.JPG

The first chart shows that 2 gametes will have the extra 21st chromosome, but what happens with the other 2 gametes labeled n-1?
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What can I expect in the long term with a 3 year old male with Trisomy 8 Mosaicism Syndrome?


Symptoms include developmental delays, slow weight gain, and corneal opacity.
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How horrible is this Trisomy 18 thing?


Seriously... have you heard about this? Most babies don't survive past one year and most won't even make it to birth.

: o (
Google it and spread the word!
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I had never heard of this until about 5 mths ago it is also known as Edwards Syndrome it is part of the Down Syndrome family and unfortunately the survival rate is very low half of babies that are diagnosed with it will die in the womb between 45-50% will die in the first few mths and a even smaller percentage roughly 10% will live to 1. It's a condition that is not as rare as people thought. I did alot of reading up on it.

I hope this has helped explain things more clearly for you  (+ info)

Would you terminate the pregnancy if test results showed your child had Down Syndrome or Trisomy 18?


my doctor asked me this, and I was like wow. I would never do that.
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I wouldn't personally. I work with kids that have disabilities and with the right caregiver they are happy kids. I know a boy who has down syndrome and he is a happy 7 year old. He sings, dances, plays, goes to school. He is only one year behind his class. He seems to love his life. Another thing is that those test have a high false positive rate.  (+ info)

Chromozone defects affecting chromozone 10, 13 and trisomy 21?


just wanting info on the affets on having these faulty chromozones
what are the effects, like facial deformitys spina bifida and such. and the chances of having another, as we are thinking of trying for another baby
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What is Trisomy 13?
Trisomy 13 is a serious chromosome abnormality that affects approximately 1 in every 5000 newborns. The cause of this condition was first described by Dr Patau in 1960, which explains why it is also referred to as Patau syndrome. A syndrome is a pattern or combination of physical, mental, and health characteristics that are usually seen together. Typically, trisomy 13 is recognizable at birth and sometimes even prior to birth due to abnormalities seen on a detailed look at the fetus with ultrasound. There are many physical signs that may be associated with trisomy 13, although no one will have all of these features. The combination of features simply helps to make a diagnosis.

Unfortunately, physical birth defects usually limit the life expectancy of a child with trisomy 13. Of infants born with trisomy 13, only about 18% will survive beyond one year. Children who do survive typically have severe mental retardation, growth difficulties, apnea (breathing problems), and seizures. It is rare for a person with trisomy 13 to survive to adulthood.

What is trisomy 21? (Down Syndrome)
Named after John Langdon Down, the first physician to identify the syndrome, Down syndrome is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems and occurs in one out of 800 live births, in all races and economic groups. Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or "trisomy 21."

Most of the time, the occurrence of Down syndrome is due to a random event that occurred during formation of the reproductive cells, the ovum or sperm. As far as we know, Down syndrome is not attributable to any behavioral activity of the parents or environmental factors. The probability that another child with Down syndrome will be born in a subsequent pregnancy is about 1 percent, regardless of maternal age.
The incidence of Down syndrome rises with increasing maternal age.
For parents of a child with Down syndrome due to translocation trisomy 21, there may be an increased likelihood of Down syndrome in future pregnancies.
A newborn baby with Down syndrome often has physical features the attending physician will most likely recognize in the delivery room. These may include a flat facial profile, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep transverse crease on the palm of the hand. However, a child with Down syndrome may not possess all of these features; some of these features can even be found in the general population.
And by chromozome 10, do you mean Autism?
I'm not as versed on the signs/symptoms or prevalence of autism.
I suggest you look into the National Institute of Mental Health, they have quite a bit of information available about the previously mention topics.
If you are worried about having a second child with a type of disorder, you should undergo genetic testing. Otherwise you will only find out when the baby is developed enough to visualize through ultrasound or perform and amnoisentesis.



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Can anybody give me a detailed pathophysiology of Trisomy 14?


It's also known as mosaicism syndrome.
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Chromosome 14, Trisomy Mosaic is a rare chromosomal disorder in which chromosome 14 appears three times (trisomy) rather than twice in some cells of the body. The term "mosaic" indicates that some cells contain the extra chromosome 14, whereas others have the normal chromosomal pair.

The disorder may be characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) during infancy; delays in the acquisition of skills requiring the coordination of mental and physical abilities (psychomotor delays); and mental retardation. Affected infants also have distinctive abnormalities of the head and facial (craniofacial) region, such as a prominent forehead; deeply set, widely spaced eyes; a broad nasal bridge; and low-set, malformed ears. Additional craniofacial abnormalities may include an unusually small lower jaw (micrognathia); a large mouth and thick lips; and incomplete closure or abnormally high arching of the roof of the mouth (palate). Many affected infants also have structural malformations of the heart (e.g., tetralogy of Fallot). In some cases, additional physical abnormalities may also be present.  (+ info)

Tested pos on trip screen for Trisomy 18?


My blood test (I am 35 yrs old and 15 weeks pg) came back with a 1 in 98 chance of Trisomy 18. The ultrasound came back with a healthy looking child. I am still scared and don't know if I should chance an amnio. Has anyone experienced this?
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i have a 12 year old daughter with full trisomy 18. my triple scan was a 1 in 24 chance and the ultrasound showed 3 markers (plexiod cysts, iugr and clinched fists). we were not going to terminate the pregnancy but decided we wanted to be prepared so we decided to do the ultrasound. please feel free to email me at [email protected] if i can answer any questions for you.  (+ info)

how would a zygote with trisomy 21 is likely to occur during fertilization?


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Has any one mated that has trisomy 18 before?


i know that the logest living person with trisomy 18 was 21 but has any one else had a baby before that they them selves had the syndrome? please give me a link or alot of info.
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This site might have what you're looking for, but I doubt there is anyone with Trisomy 18 who has had a child.
http://www.trisomy18.org/site/PageServer?pagename=parents_caring  (+ info)

Can someone with Edwards syndrome(trisomy 18) have children in the future if they live long enough?


is there any organizations that help support families with Edwards syndrome?
and i know most dont live that long, but i need a possibility if they DO live that long if its possible
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Trisomy 18 is almost always fatal in the first year of life, most don't live more than a few days.  (+ info)

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