Doctor insights on:
Is Ethnicity A Factor In Down Syndrome
Universal: These sporadic abnormalities occur across racial, ethnic & cultural lines throughout the world. The lack of a common database along with reporting variations in different countries limits the refines analysis of population frequency. ...Read more
Chromosome defect: Ds is one of the more common chromosome (c) defects that can survive pregnancy (many others miscarry). It usually happens when an egg with an extra 21c combines with a normal sperm & creates a baby with the extra 21c in all tissues. Risks vary with age and are lowest in the early 20's (1/2000), rising to 1/100 at about 40 & 1/12 at 49.Various prenatal tests can pick up signs early on. ...Read more
If the 1st trimester screening for Down syndrome was negative, how much does an echogenic focus at 20 week screening factor in?
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.Here a pair of moms 21c +dad's 21 creates a baby with the extra 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
DNA defects: Chromosome 21 seems to be the cause. Two most common types are trisomy 21 where ther is an entire extra chromosome in each cell. The other is translocation where only an extra piece of the chromosome is found. It can be an isolated defect or an inherited defect. Rare exotic forms include polyploidy and haploid forms and chimeras. Sorry you asked? ...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
Down syndrome: Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be cured but treatment and support can help someone with Down's syndrome to lead an active life. A number of advice and support groups are available for people with Down's syndrome and their families and carers. ...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
Rarely: Downs syndrome is usually related to a trisomy defect that develops during the initial cleavage of the cells during primary fetal development. A form can occur as a translocation that may be carried by a parent. An assumption is that the 21 chromosome may be damaged by maternal age or by some environmental factor that then results in downs syndrome. Most cases are just by chance. ...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
Old world term: Before the chromosome defect was found in '60's, the the facial structure of Down syndrome kids/adults, reminded folks of the features of mongolian race. Original scientific publications used that terminology. It was well into the '70's before the descriptions began to change ; the public began to use the term Down syndrome exclusively. ...Read more
Before/after birth?: There are a variety of screening or confirmatory tests that can be done during pregnancy. After birth, many physical features are suggestive of the diagnosis, but the physician involved would order a chromosome test to confirm or exclude the issue. Over the years, some had signs so mild many would miss the diagnosis. Others looked so different I didn't believe it. ...Read more
Extra 21 chromosome: The majority of Down syndrome develops when the fertilized egg gets an extra number 21 chromosome from the mother. When that cell divides and forms an embryo, every one of the cells in the baby's body have that extra 21 chromosome. There are rare cases where a baby inherits an extra part of the 21 chromosome from one of it's parents. The extra genes on the 21 chromosome cause the down syndrome. ...Read more
None of the above: 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
For an assessment:
Of the child's developmental needs & toilet-training readiness, if < 3 yrs. Old, call Pam Barton,
Franklin County Help Me Grow Coordinator at (614) 227-9860. If 3-5 yrs. Old, call Lynn Brannon, Director of Early Childhood Special Education at (614) 542-4106.
At the same time, call (614) 355-8080 for an evaluation at the Down Syndrome Clinic, Nationwide Children's Hospital, (614) 355-8080. ...Read more
Every cell affected: Down syndrome is caused by having an extra copy of chromosome 21. Typically, this is caused by having three full copies of chromosome 21, also known as trisomy 21. Every cell in the body has an abnormal number of chromosomes, so it's easy to imagine that multiple organ systems would be affected. A valuable resource for Down syndrome health supervision is available from the aap. Www. Aap. Org. ...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
1/100 births: As above the rate of ds births are lowest in the early 20's at about 1/2000 with a gradual increase in risks that hit 1/100 at 40.There is always a baseline risk of about 4% of an unexpected outcome with any pregnancy.This must be added to specific age related risk. A visit with a genetic counselor can identify specific risk for any couple. ...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
- Talk to a doctor online
- Is ethnicity a factor in cold sores?
- Is gender a factor in vanishing twin syndrome?
- Type of mutation of patau syndrome
- Angelman syndrome dominant or recessive
- Is down syndrome a dominant or recessive trait?
- Are there any personality traits typically associated with with marfan syndrome?
- Are there different levels of down syndrome?
- Emotional effects of down syndrome
- Is down syndrome autosomal dominant or recessive?
- Is edwards syndrome dominant or recessive?
- Is turner's syndrome dominant or recessive?
- Mosaic down's syndrome characteristics
- Is down syndrome a sex linked gene?
- Is turner syndrome a mutation?
- Is down syndrome sex linked or autosomal?
- Is fetus femul length always related to downs syndrome?
- Hypermobility syndrome signs
- Hypermobility syndrome drugs
- Is down syndrome autosomal or sex linked?
- Which type of chromosomal mutation causes this form of down syndrome