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Doctor insights on: What Is Trisomy 23

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What is trisomy 23? What's the official name for it?

What is trisomy 23? What's the official name for it?

Klinefelter's: This link has some great information about klinefelters: http://trisomydisorders. Wordpress. Com/2008/10/30/trisomy-23/. ...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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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

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Now is a partial trisomy formed?

Partial trisomy: "partial" trisomy refers to only having an extra copy of part of the chromosome, not the entire chromosome as is the case in full trisomies. The extra piece is usually inserted into or attached to another chromosome. Hope that helps. ...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 complications could a baby with trisomy 16 experience?

What complications could a baby with trisomy 16 experience?

This is complicated.: It's complicated because full trisomy 16 is 99.9% fatal before birth. Newborns with partial trisomy 16 may live - most have multiple birth defects and serious developmental problems. The exact types of birth defects are different depending on what parts of chromosome 16 are duplicated. Your clinical geneticist or genetic counselor can help. You can find a GC here: http://nsgc. Org/p/cm/ld/fid=164. ...Read more

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What other trisomy's are there besides 21 and what do they cause?

What other trisomy's are there besides 21 and what do they cause?

Many: Only about 1 in four conceptions go to term. The others are mostly all affected by either trisomies or monosomies, and are incompatible with survival. Most die before implantation, and a mom won't even know that conception had occurred. Many may implant, but die either before an embryo is visible (a blighted ovum) or later. Trisomies 13, 18, and 21 may survive until birth. ...Read more

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Can you please explain what Trisomy 16 is and list the symptoms for me? Thank you.

Can you please explain what Trisomy 16 is and list the symptoms for me? Thank you.

Trisomy 16: Trisomy 16 is a fetus w/ three copies of this chromosome instead of the usual 2. It is responsible for almost 10% of miscarriages in the US. Although full trisomy 16 is not compatible w/ life, there are children born with partial trisomy 16. These children have heart and vascular problems, delayed growth, speech and physical development, reproductive disorders and kidney problems. Trisomy16.org ...Read more

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What is trisomy 22?

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 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

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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?

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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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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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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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 trisomy 13?

What is trisomy 13?

Chromosome error: Humans have 23 pairs of chromosomes (c) making up our dna.When the egg or sperm form, the (c) pairs are supposed to split up with 1 (c) of each pair going to the egg or sperm. If the 13 (c) does not split & both go into an egg, fertilization will add a 3rd from dad & a trisomy 13 will begin to form. The imbalanced (c) causes malformations, miscarriage or early death. ...Read more

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What're the causes of trisomy 18?

Error in formation: During the formation of the egg or sperm, the chromosome (c) pairs split with one of each going to the egg or sperm. At conception, the egg & sperm each bring 1 of each (c) & the embryo starts with a pair of each. If there is an error & the 18pair doesn't split but donates a pair of 18's to the egg, then it picks up a 3rd from the sperm. Age/toxins/radiation etc all may play a role in (c) errors. ...Read more

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How to deal with trisomy 18?

How to deal with 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'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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What people with trisomy get dementia?

Down's syndrome: Down's syndrome involves a trisomy of the 21st chromosome, or an extra copy of chromosome 21. People with down's syndrome have a higher risk of developing dementia earlier. ...Read more

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What population is affected by trisomy 13?

What population is affected by trisomy 13?

?? odd question??: Humans of any race, culture, ethnic group, social status, etc. Can have a baby with trisomy 13. ...Read more

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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 I know if I am a carrier of trisomy 18?

Chromosome study: Most trisomy 18's arise as a new error on meiosis during the formation of a womans egg. It is not "carried" like a sickle trait. There is a rare possibility that infants with trisomy 18 picked up the material from a parent with a balanced switch between 2 chromosomes. The babies study would show the translocation not t18, parents would need to be studied in such a case. ...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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When should babies start to crawl if trisomy 21?

They may never: Crawling ends up the least important milestone for a baby. An infant with chromosomal defect usually has low muscle tone and will be delayed in sitting and walking. Most tend to scoot on their bottoms and then learn to pull up to stand and then walk along furniture. They usually do not bother to crawl. Crawling is not necessary. They will progress their way - with appropriate help. ...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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When do people get tested as a carrier for trisomy 18?

Translocation: If the edwards syndrome infant has translocation (joining of chromosomes) rather than a free-standing extra 18 chromosome (trisomy), then the parent may "carry" this translocation in balanced form without symptoms. Translocation carriers can have a 10-50% risk for future infants with edwards as opposed to the very small risk (<1%) when the child has trisomy 18. ...Read more