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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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Dr. Kathryn Akin
641 doctors shared insights

Down Syndrome (Definition)

Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood ...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

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