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Doctor insights on: What Kind Of Conditions Does Down Syndrome Cause

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Which type of mutation causes down syndrome?

Which type of mutation causes down syndrome?

Trisomy 21: Down syndrome is also called trisomy 21. That means that there is a partial or complete third copy of the chromosome 21. It is the most common chromosomal abnormality. ...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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Which type of chromosomal mutation causes down syndrome?

Which type of chromosomal mutation causes down syndrome?

Not mutation,number : Down syndrome is an abnormality of chromosome numbers, not a trait or mutation in the gene code. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 nbr 21chm to the other parents nbr 21, 3 end up in the egg ; the excess 21 causes the all the problems.Rare forms are causes by a extra piece of a 21, but that's another issue. ...Read more

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What kind of education is best for a Down syndrome person?

What kind of education is best for a Down syndrome person?

Early Intervention : Improves development, especially in fine-motor, social & self-help skills. Early childhood special ed at 3, with iep's including long-term speech & language, occupational, physical & behavioral therapy. Visual organizers, schedules & written/pictorial instructions work well because of strengths in visual motor skills & weakness in verbal short-term memory. Balance inclusion & special ed classes. ...Read more

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What kind of support is there for families whose infants have down syndrome?

What kind of support is there for families whose infants have down syndrome?

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

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What kind of condition is Down syndrome in a baby?

What kind of condition is Down syndrome in a baby?

Chromosomal disorder: Down syndrome or trisomy 21 is a condition cause by an extra (usually maternal) chromosome #21. It cause a typical features(large tongue up slanting eyes sandal toe) as well as mental retardation. Other medical conditions such as leukemias and orthopedic conditions are also more common. Increased incidence is seen with older mothers. ...Read more

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What kind of testing is there besides amniocentesis for down syndrome?

What kind of testing is there besides amniocentesis for down syndrome?

Screening / specific: There are some early screening tests like the maternal AFP determination or of a prenatal ultrasound that can be suggestive of ds but are not specific. The amniocentesis gathers cells that were shed by baby during pregnancy.Chromosome study of these cells is specific and dependable to confirm or exclude genetic disorders like ds. ...Read more

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What causes down syndrome?

What causes down syndrome?

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

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What are the different causes down syndrome?

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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Why are women the cause of Down syndrome more often than men are?

Why are women the cause of Down syndrome more often than men are?

Non dysjunction: This term means that one of the earliest divisions of the embryo after conception delivers 3 number 5 chromosomes to a daughter cell and only one to the other daughter cell. The trisomy cell survives to create down's syndrome babies. ...Read more

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