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Doctor insights on: Trisomy 6 Syndrome

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What is patau syndrome, a trisomy?

What is patau syndrome, a trisomy?

Trisomy 13: Patau syndrome is also called trisomy 13. It occurs when a baby has 3 copies of the number 13 chromosome instead of the usual 2 copies. It causes severe physical problems and most babies with trisomy 13 die before birth or within the first year after birth. It usually happens because of an accident which occurs when the egg is fertilized, and occurs more commonly as mothers get older. ...Read more

Trisomy (Definition)

Ordinary chromosomal traits require a pair of chromosomes to determine the traits. Occasionally, as a mistake in cellular division, there is a tripling of one of the chromosomes. When these occur, they usually cause unpleasant, and sometimes deadly conditions in the inheritor of these traits (e.g. Down's). Many we do not know about as they are ...Read more


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How can you treat Down syndrome (trisomy 21)?

How can you treat Down syndrome (trisomy 21)?

Supportively: Down syndrome itself does not need to be treated however certain conditions that can go along with ds should be managed and prevented if possible. These include monitoring for disturbances in growth and obesity, getting a cardiac workup to evaluate the heart function, have hearing and vision testing, check thyroid function, monitor the blood yearly for abnormal blood counts, good dental hygiene. ...Read more

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How to know if certain people are more likely to get trisomy number 13 patau syndrome than others?

Amniocentesis: Trisomy 13 can be diagnosed by amniocentesis with genetic study of the chromosomes prior to birth. ...Read more

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I heard that certain people are more likely to get trisomy number 13 patau syndrome than others, why is that?

Child of older mom: Increasing maternal age increases the risk for chromosome disorders, highlighted by trisomy 21 (down syndrome) but applying to rarer trisomies like the trisomy 13 causing patau syndrome (1 in 8000 births or so). Risks for trisomy increase gradually with maternal age, going from <1 in 2000 under 30 to ~ 1 in 50 over age 40, with age 35 arbitrarily set as high risk (~1 in 200). ...Read more

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What is edwards syndrome (trisomy 18) like?

What is edwards syndrome (trisomy 18) like?

Extra chromosome: In trisomy 18 the patient has an extra chromosome 18. This genetic disorder frequently causes heart and kidney defects. They may have a small head and jaw and usually have severe developmental delay. Here is a link http://www. Trisomy18.Org/site/pageserver? Pagename=whatist18_whatis. ...Read more

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Is there a cure for edwards syndrome trisomy?

Is there a cure for edwards syndrome trisomy?

No: Those with a standard trisomy have the abnormality in every cell of their body. The vast majority will die within the first year from one of many major congenital abnormalities with this defect. ...Read more

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How do you treat edwards syndrome (trisomy 18)?

Keep them comfortabl: These patients are supported with comfort measures as much as possible. Fluids, nutrition, oxygen, etc. As a universally fatal disorder, management focuses on comfort rather than things that would prolong the act of dying. ...Read more

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What is edwards syndrome (trisomy 18)? What causes it?

Extra chromosome: In trisomy 18 the patient has an extra chromosome 18. This genetic disorder frequently causes heart and kidney defects. They may have a small head and jaw and usually have severe developmental delay. Here is a link http://www. Trisomy18.Org/site/pageserver? Pagename=whatist18_whatis. ...Read more

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Where can I find more information on trisomy 18 or edwards syndrome?

Trisomy18.org: There is a foundation set up for this syndrome - go to http://www. Trisomy18.Org. ...Read more

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Is it possible for someone with edwards syndrome (trisomy 18) have children in the future if they live long enough?

Maybe: This is complicated. First, in most cases, there is an extra chromosome in all cells so the sperm and eggs will be genetically defective anyways & so can't create an embryo. Rarely, one can have mosaicism in which some cells have trisomy 18 - theoretically, the sex cells could have the normal 23 pairs. However, there's also anatomic problems like undescended testes in males. So the odds are low. ...Read more

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What's the relationship between trisomy 21 and down syndrome?

What's the relationship between trisomy 21 and down syndrome?

Name game: Dr. Langdon Down worked at a home for the retarded in Britain in the 1800's.He was credited for the first published description of the syndrome that would carry his name. After the human chromosomes were identified and numbered in the 1950's, DS was studied and trisomy 21 was identified in most. Later studies show an extra piece of a specific area of the 21 is all that is needed to have DS. ...Read more

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What is the average lifespan of someone with trisomy 13, patau syndrome?

Lifespan: In my clinical experience of 31 years practicing neonatal medicine, I would have to answer your question with a vague response. This is because each affected child does not necessarily have the same degree of affliction. The literature on this tells us that 99.9% die before a year of age. I have not seen one survive longer than two months, and I have seen many. ...Read more

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My trisomy is 1:14. What is the chance of my baby will have down syndrome. Ultrasound clear.

My trisomy is 1:14. What is the chance of my baby will have down syndrome. Ultrasound clear.

T1;14 (p22;q32: Commonly seen in extranodalMZL associated with lymphomas
downs syndrome translocation involves different chromosomes
so the chance of downs syndrome is that of the general public not any more ...Read more

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Can you tell me how can the chromosomal conditions, trisomy x, xyy syndrome and turner syndrome differ?

Can you tell me how can the chromosomal conditions, trisomy x, xyy syndrome and turner syndrome differ?

Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. Http://ghr. Nlm. Nih. Gov/ is really good (thanks uncle sam). ...Read more

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I was told my unborn baby has a 1:120 chance of trisomy 21. I am doing more testing, but how concerned should I be that my baby has down syndrome?

I was told my unborn baby has a 1:120 chance of trisomy 21. I am doing more testing, but how concerned should I be that my baby has down syndrome?

Glass half empty?: You can also look at this as a 98+% chance you don't. Any pregnancy has about 4% chance of some unexpected outcome, including prematurity, birth defect, sick baby, etc. If you're like most moms you worry about stuff like this happening anyway, it was just brought into focus by the comment. Hang in there and try to enjoy the idea you will likely have no problems. ...Read more

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What is the average lifespan of baby born with trisomy 13, patau syndrome?

What is the average lifespan of baby born with trisomy 13, patau syndrome?

Days/weeks.: Stillbirth (see picture) is very common. Of liveborns, 80% of affected infants die within the first month of life; only 5% survive the first six months. Severe intellectual disability, seizures, and failure to thrive are noticeable in survivors over 1 year of age. No interventions for fetal benefit are ethically justifiable during pregnancy (no cesarean section, no fetal monitoring indicated). ...Read more

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7month baby (Down Syndrome-trisomy 21).Friend suggested NuTriVene-D vitamins (Daily Supplement, Daily Enzyme, and NightTime Formula).What do you think?

7month baby (Down Syndrome-trisomy 21).Friend suggested NuTriVene-D vitamins (Daily Supplement, Daily Enzyme, and NightTime Formula).What do you think?

Supplement review: Although I do not have first hand experience with this product, I have reviewed the website and their claims. They claim to manufacture according to current Good Manufacturing Processes, have FDA inspected facilities, and appear to have policies for lab testing for product purity and quality. These practices are generally good indicators of a reputable company, so the product is likely safe. ...Read more

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Trismoy21 1: 1067 trisomy 18 1: 2674 trisomy 13 1: 8368 does it mean my child has down sydrome?

Trismoy21 1: 1067 trisomy 18 1: 2674 trisomy 13 1: 8368 does it mean my child has down sydrome?

Unclear: The information you list provides no specific information on which to base an answer. How was the data obtained and why? Does it relate to some specific test, a pregnancy, a genetic counseling session? Questions should provide basic information on the problem and ask a clear question. The public site is not a chat room and none of your prior submissions are linked. Try again if you wish. ...Read more

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What is the definition or description of: trisomy?

What is the definition or description of: trisomy?

Chromosomal tripled: Ordinary chromosomal traits require a pair of chromosomes to determine the traits. Occasionally, as a mistake in cellular division, there is a tripling of one of the chromosomes. When these occur, they usually cause unpleasant, and sometimes deadly conditions in the inheritor of these traits (e.g. Down's). Many we do not know about as they are lethal prior to birth. ...Read more

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What is trisomy 22?

Trisomy 22: Trisomy is a big word that really only means three copies. Trisomy 22 means three copies of chromosome 22. Trisomy 22 causes many spontaneous pregnancy losses. If a fetus has trisomy 22 it rarely survives into the second or third trimester. If born alive, the newborn usually dies. ...Read more

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What are the effects of trisomy 17?

What are the effects of trisomy 17?

See below: It's a rare genetic disorder where duplication of genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is duplicated. Possible symptoms:
•impaired intelligence
•developmental delay
•reduced muscle tone
•various facial anomalies
•short stature. ...Read more

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What is another name for trisomy 21?

Down Syndrome: This syndrome was named for j langdon down, a physician who ran a foundling hospital in britain many years ago. He wrote up one of the first recognized descriptions of the common features of the syndrome published in a medical journal. ...Read more

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What are the differences between trisomy 21 and xxx?

What are the differences between trisomy 21 and xxx?

Completely different: Down syndrome (trisomy 21) is characterized by varying degrees of neurodevelopmental delay (mild to severe) propensity for dementia at early age and heart/blood disorders, but may have a near normal life span. Extra chromosome x is usually very mild condition; affected females tend to be tall and have relatively small heads and minimal decrease in their verbal and performance iq scores. ...Read more

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Can doctors tell if a baby has trisomy when it is not yet born?

Can doctors tell if a baby has trisomy when it is not yet born?

Sure!: Non-invasive tests such as maternit21 can now reliably predict the birth of an infant with Down syndrome or other trisomy syndromes such as patau and edwards; this method has not risk for the pregnancy, as it is performed on maternal blood (contains fetal dna). Invasive prenatal diagnosis techniques can also arrive at the same information by sampling fetal/placental tissues (amniocentesis, cvs). ...Read more

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What's abnormal facies in trisomy?

Abnormal facies: The term "abnormal facies" refers to unusually facial features. What unusual facial features present will depend upon which trisomy is present. ...Read more

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Is it more lethal to have a trisomy of autosomes or of sex chromosomes?

Is it more lethal to have a trisomy of autosomes or of sex chromosomes?

Autosomes: All but trisomy 21 will kill one before or soon after birth. People who I know suspect I have XYY; this, XXY, and XXX are famously survivable and some say XYY and XXY offer plusses. ...Read more

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What is trisomy?

What is trisomy?

Error in formation: Humans have 23 pairs of chromosomes or 46 total. During the formation of the egg, each pair splits and one of each travels to the egg. At conception, the sperm brings one of each & the new embryo now has 23 pairs (two of each). Any time one of the chromosome pairs doesn't split & gives a pair to the egg, a third will come from the sperm and a trisomy of that chromosome is formed. ...Read more