Doctor insights on:
How Is Down Syndrome Passed From Parent To Offspring
In most cases: The basic risk of a female having a ds offspring increases from a low in the early 20's (1/2000) to 1/100 @40 & 1/12 @ 49.Chromosome origination studies suggest the anomaly ares in egg rather than the sperm, likely because a blighted sperm doesn't swim as effectively. Age is therefore less an issue for the male. In rare translocation ds, gender is not as much an issue. ...Read more
What is the risk of a trisomy 21 parent passing on the condition to his/her offspring? Should adults with Down syndrome be dissuaded from reproducing
Depends on type: Risk to offspring depends on parents inheritence pattern. ...Read more
Confusing question: Certainly women with Down syndrome are fertile, achieving puberty at the same time as most of their age group. They can have infants that are both normal and have down syndrome. The question is an articulate one, more so than some of the physician answers. You appear to be stating ds skipped a generation in your family. Unless yours is a mosaic form, I doubt you are ds, ? Who is writing this? ...Read more
How long does a Down syndrome person usually live? Is that a problem since parents are usually old?
6 decades +: Years ago the expected lifespan for ds kids was short, due to a combination of heart defects, increased vulnerability to infection & lack of aggressive management. Today the projected lifespan exceeds 6 decades. Ds is a prime example of the need for survivor assistance planning. Various ds support groups, the "arc", social workers all help families integrate public & private support. ...Read more
If my grandma have Down syndrome and me and my parents don't, is it possible that my child have down syndrome?
Unlikely: The traditional 21 ds female is capable of having healthy babies and at least half would not have ds. Those healthy babies would not have more than 1% risk having a ds kid nor would their kids. Less than 2% of ds patients are balanced carriers of an extra piece or a 21, and the chance that they would have any normal kids (your parent) approaches zero. ...Read more
Is there a type of mosaic Down syndrome that doesn't require the mutation to come from either parent to have a downs child?
Yes: A mosaic Down syndrome child can come from a normal egg and normal sperm, produced by normal parents. The fertilized egg would start out normal with 46 chromosomes. It can divide into 2 normal cells, which themselves divide again. If on one of the early divisions, one cell ends up with an extra #21 chromosome and survives to continue dividing, the child will be mosaic with some trisomy 21 cells. ...Read more
Wouldn't happen: Although DS girls enter puberty and become fertile the male rarely if ever achieves this status. DS females have offspring after conception by normal males, usually from abuse or incest. These are roughly half normal and half DS. Males with DS rarely if ever achieve a fertile status and because of this outcome would be unknown if ever conceived. ...Read more
Can extremely high sugar level in a male lead to (down syndrome) in his offspring. We are so scared of making babies.
No: Males get a bit of a pass on the ds issue. You make millions of sperm that are constantly renewed and only the healthiest sperm swim well enough to conceive. Any weak ones wouldn't do the deed. Women present only one egg at a time and those show the accumulated effect of toxins an the like. You may benefit from talking with a genetic counselor to explore any risk issues. ...Read more
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
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
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
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
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
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
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
It isn't...: Maternally inherited, unless the mother has down's syndrome. Inherited means it's passed from generation to generation. When down's occurs, the egg has two copies of chromosome 21 instead of the usual one copy, so when the egg is fertilized, it ends up with three copies instead of the usual two. This is a new event, not an inheritance. The risk of down's syndrome increases with maternal age. ...Read more
The risk depends on the mechanism. Most Down syndrome is caused by extra copy of chromosome 21. The risk of having 2nd child with Down syndrome because of this mechanism is quite low (<1%). If translocation in dad is the cause, risk is 3%; if translocation is in mom, risk is 10-15%.
http://www. Mayoclinic. Com/health/down-syndrome/ds00182/dsection=causes. ...Read more
Complex issue: Children with downs syndrome can be seriously ill at birth. They may have heart disease, bowel obstruction, serious lung disease, blood sugar problems. If these are not present, they may be healthy but hypotonic with trouble feeding. Usually they have obvious features of their face and ears and hands that suggest the diagnosis. Chromosome testing will confirm the diagnosis. ...Read more
Loose tone: The infant with Down syndrome will usual have loose tone, very flexible joints and be delayed in sitting and walking. They usually scoot rather than crawl. Their develop can improve rapidly with good directed play. They usually have problems chewing and swallowing with frequent coughing and chocking. But this will also improve with time. Speech is slow and difficult. ...Read more
Many support groups: Internet resources for parents of children with Down syndrome include the national association for down syndrome, at www. Nads. Org, a social networking site for parents of Down syndrome children at www. Downsyndrome. Com, and sids network, a world of information and support, found at http://sids-network. Org. These groups have local chapters also. March of dimes is another place to seek support. ...Read more
Public Law IDEA: Mandates that every child in the usa receive a free & appropriate education, provided by each state's early intervention program from birth-3 & public schools 3-22. Medical costs vary depending on medical issues seen in kids with down syndrome, all of which should be covered by private insurance. Ssi & medicaid funding are family-income based; the katie beckett program is not. See://www. Ndss. Org/. ...Read more
See below: Look for any change of personality, memory loss and loss of functional activity such as bathing, dressing. The new onset of dementia varies by age. For down's syndrome, it is best diagnose by looking at the clinical symptoms - behaviorally, functionally and cognitively - almost same way as someone diagnosis for alzheimer's disease. ...Read more
Other way around: Atrioventricular (av) canal defect is a relatively common congenital heart defect in children born with down syndrome. Down syndrome "causes" av canal defects, not the other way around. Av canal defect is a major congenital anomaly with the potential to cause severe symptoms. However, in most cases, av canal defect can be repaired. High levels of surgical skill is important for best outcomes. ...Read more
No: Epicanthal folds can also be seen in asians, russians, and other races/cultures. In Down syndrome there are other features such as hypotonia, wide space between 1st and 2nd toe. There is a 50% chance of heart defects as well. The palpebral fissues (the eyelid opening) slants upward. The 5th finger is often short and curves inward. There are many other features with down syndrome. ...Read more
Brush field spots: They are one of many stigma or signs seen in a down's syndrome patient. ...Read more
The blood test.: The blood test is testing for 3 copies of chromosome #21 in cells. We normally are only supposed to have 2 copies of chromosome #21 in each cell (1 copy from mother, 1 copy from father). If there are 3 copies found then the Diagnosis of Downs Syndrome (also called Trisomy 21) is made. ...Read more
Maternal serum: Screening at 10-14 weeks + fetal ultrasound (fus) at 11-14 weeks + maternal "quad" screen at 16 weeks detects ~ 95% of fetuses with Down syndrome with <5% false-positive rate. Increased size of the fluid-filled space at the nape of the neck & abnormalities of blood flow in the heart are signs on early fus. Diagnostic testing is chorionic villus sampling at 10-12 weeks or amnio at 15-18 weeks. ...Read more