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Doctor insights on: What Is Trisomy 21 Down Syndrome

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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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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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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. ...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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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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Is Down syndrome always caused by a defect in the 21 chromosome?

Is Down syndrome always caused by a defect in the 21 chromosome?

Extra chromosome 21.: Either complete or partial trisomy for chromosome 21 is always responsible for down syndrome. ...Read more

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What do you suggest if my son ,down syndrome(karyotype a 47,xy,+21), hearing impared child is 22years old.?

What do you suggest if my son ,down syndrome(karyotype a 47,xy,+21), hearing impared child is 22years old.?

? question: Not sure what the question is. There are numerous adult residential facilities and support programs available. Here is a place to start: http://www.ndss.org ...Read more

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My son has Down syndrome (karyotype a 47,xy,+21), He is also hearing impared (22 years old). Are these related?

My son has Down syndrome (karyotype a 47,xy,+21), He is also hearing impared (22 years old). Are these related?

A high percentage: of infants, children & adults with DS have hearing impairment. In the young, conductive hearing loss is very common because the narrow Eustachian tubes lead to chronic middle ear disease. However, sensorineural hearing loss is also more common in those with DS than in the general population & can co-exist with conductive hearing loss. Decreased visual acuity for various reasons is also frequent. ...Read more

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What is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?

What is the reasons that lead to inversion duplication in chromosome 21 that lead to down syndrome?

Explanation : Down syndrome is trisomia of 21 chromosome due to abnormal distribution of chromosomes in process of cell's divisions. Some risk factors as mother"s age after 35 years very important. ...Read more

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Why is my baby down syndrome?

Why is my baby down syndrome?

Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.In ds the pair of moms 21c +dad's 21 creates a baby with the three 21c in all tissues.This extra material confuses the creation of body parts causing ds..Various prenatal tests can pick up signs early on. ...Read more

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Why does Down syndrome happen?

Why does Down syndrome happen?

Mistake in chromosom: During the formation of normal eggs or sperm the chromosome(c) pairs are supposed to split leaving one of each in the egg/sperm.At conception the joining of egg/sperm brings together the pair & as tissue grows it has the proper number in each cell. With ds the egg has a pair of 21c and at conception a triple 21 is created. All cells derived after will have an extra 21 & become a ds child. ...Read more

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How can you inherit down syndrome?

Depends on parents: An unaffected mother or father could have a balanced(normal) set of chromasome material where a piece of one 21 chromasome is stuck on another.If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds.It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read more

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Down syndrome is autosomal dominat?

Down syndrome is autosomal dominat?

No autosomal: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg & the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read more

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What are the symptoms of down syndrome?

What are the symptoms of down syndrome?

See below: Flat face, hypotonia, and intellectual disability. One third of patients develop congenital heart defect(s). ...Read more

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What are the problems of down syndrome?

Many: Increased incidence of congenital heart disease, gastrointestinal problems such as atresia and hirschsprung's, nutrition with gasroesophageal reflux and aspiration, hypo or hyperthyroidism, and neurologic; mental retardation, joint laxity and hypotonia. Some down syndrome have few problems, and some many problems. ...Read more

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How you tell if someone has down syndrome?

How you tell if someone has down syndrome?

Doc should recognise: Down syndrome is one of the most recognizable patterns of any chromosome defect ; one that most doctors can recognize. There are a variety of internet sites with lists of features. If you have concerns you should share them with your physician.A chromosome test can confirm or exclude the diagnosis. ...Read more

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What are the different causes down syndrome?

Downs syndrome: Trisomy 21 when there is an extra chromosome at 21, mosaicism when some cells have trisomy and others not, robertson translocation [n which long arm of 21 chromosome is attached to another chromosome often chromosome 14. ...Read more

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Dr. Kathryn Akin
646 doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more