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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.

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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.

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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).

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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

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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).

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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 olf some unexpected outcome, including prematurity, birth defect, sick baby, etc. If your 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 wile likely have no problems.

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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).

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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.