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Doctor insights on: Down Syndrome Awareness Ribbon

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Dr. Kathryn Akin
648 doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more


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How does a person get down syndrome?

How does a person get down syndrome?

Chromosomal abnormal: Down syndrome is caused be a chromosomal abnormality tha occurs at the time of fertilization. It is usually associated with the fertilization of an egg carrying2 number 21 chromosomes. ...Read more

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Is it possible to catch down syndrome?

Is it possible to catch down syndrome?

Down syndrome : Down syndrome is not an infection, it is a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body.You cannot catch it from someone. ...Read more

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How do Down syndrome & mongloid differ?

How do Down syndrome & mongloid differ?

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

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How to tell if a baby has down syndrome?

How to tell if a baby has down syndrome?

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

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Is down syndrome sex-linked or autosomal?

Down Syndrome: Down syndrome, also known as Trisomy 21, is an autosomal genetic disorder. Down syndrome occurs when a person has a full or partial copy of chromosome 21. ...Read more

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Is down syndrome autosomal or sex linked?

Is down syndrome autosomal or sex linked?

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

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Are there limited symptoms of down syndrome?

Are there limited symptoms of down syndrome?

Yes: There are high functioning down's and then there are children more severely affected. ...Read more

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What is the chance of getting down syndrome?

If Mom is 36 at term: risk of having a fetus with DS at 16 weeks' gestation is 1:200; risk of having a full-term baby with DS is 1:275. If mom is 37 at term, risk at 16 weeks is 1:150; at term, 1:225, because some pregnancies are lost. Comprehensive 1st trimester screening & integrated 1st & 2nd trimester screening calculate risk by specific hormone & protein levels in mom's blood + fetal ultrasound + maternal age. ...Read more

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What population is affected by down syndrome?

What population is affected by down syndrome?

Confusing question: Down syndrome is present in any racial, ethnic, social, economic or other group in any country in the world. It can occur to women giving birth at any age but is more common in older mothers. ...Read more

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What are the odds of my baby having down syndrome?

What are the odds of my baby having down syndrome?

Variable: A thorough assessment of anyone's risks for pregnancy includes age, pre-pregnancy health ; medications, and an assessment of the genetic input from both parents. A 43 yo has ~1/30 risk of a trisomy 21 down syndrome birth, added to a general 4% risk with any pregnancy for an unexpected event (cleft, premi, illness). A consultation with a genetic counselor could define your specific risks. ...Read more

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Is Down syndrome common in some parts of the world?

Everywhere : Down syndrome is a recognized chromosome defect that affects every ethnic group and social class in the world. ...Read more

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In what way can you tell if you have down syndrome?

In what way can you tell if you have down syndrome?

Chromosome test: Down syndrome is a pattern of malformation ; disordered development related to extra chromosome material carried by the patient. It's most common form involves an extra 21 chromosome, (trisomy 21) in every cell in the body.Less than 10% are mosaics that have a percentage of t21 and some normal.Others have cells with extra 21 material stuck on another chromosome.It is confirmed by a chromosome test. ...Read more

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What is the definition or description of: Down syndrome?

Trisomy 21: 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 dyscrasia, mental retardation, etc... ...Read more

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How were people with Down syndrome treated in the 1940s?

Institutionalized: A common approach to ds patients in the 40's was to reccomend institutionalization.Up to 1/3 had a potentially lethal heart defects that could not be fully assessed or fixed at the time & many other issues that seemed futile. Families were encourages to house them in specialized centers where they would be given basic care for what was expected to be a short life of 2-30 yrs. ...Read more

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What are the characteristics of Down syndrome in children?

DS Phenotype: flattened face, upward-slanting eyes, skin folds at inner corners of eyes, transverse palmar crease, & more. Many have congenital anomalies of the heart, intestine, skeletal system & other organs, along with hearing loss, vision problems & certain blood & neurological disorders. Intellectual Disability is usually mild-moderate. Guidelines for medical & developmental care are well-established. ...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 are the mental limitations of someone with Down syndrome?

What are the mental limitations of someone with Down syndrome?

About 70% of people : with DS have mild -moderate Intellectual Disability (ID) by standardized tests of abstract thinking, problem-solving, planning, academic learning, etc. & of adaptive ability in cognitive, social & practical areas. Mild ID = IQ 50-70; moderate ID = IQ 35-49. Some have IQ's in the Borderline Range of normal, 70-79; others, severe ID = IQ 20-34 or profound ID = IQ l<20. See www.ndss.org for more. ...Read more