Doctor insights on:
Is Down Syndrome Fatal
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.See 1 more doctor answer
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.
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.See 2 more doctor answers
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.See 1 more doctor answer
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.
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.
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.See 1 more doctor answer
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.See 1 more doctor answer
Yes...: 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%. See: http://www. Mayoclinic. Com/health/down-syndrome/ds00182/dsection=causes.
Neither: 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.
Several possible: The features of down syndrome seem to be dependent on the addition of one extra segment of a 21 chromosome. You can get there several ways. The traditional ds (~95%) has 3 copies of a 21 chromosome. About 4% have the specific extra 21 piece stuck on a regular chromosome. About 1% have a mosaic of some normal and some 21 trisomy in variable amounts.See 3 more doctor answers
Physical and genetic: Down's syndrome is a genetic disorder having one too many of the 21 chromosome. Most are detected on the triple screen, followed by genetic testing on amniocentesis. However, there are physical signs to look for: a single palmar crease, very weak musculature, distinct facial features, and heart defects. There are other smaller signs. There will be developmental delay, and other health issues later.See 1 more doctor answer
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.See 1 more doctor answer