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Doctor insights on: Are There Different Levels Of Down Syndrome

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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

Dr. Kathryn Akin
654 Doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more


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My brother does not have down syndrome. Although he cannot read, write, or recognize different colors, he can memorize names/ faces. Is there any cure?

My brother does not have down syndrome. Although he cannot read, write, or recognize different colors, he can memorize names/ faces. Is there any cure?

Diagnosis: The first thing is get him properly diagnosed. I would start with a pediatric neurologist or behavioral pediatrician. The evaluation should include chromosomal analysis with a micro array assessment. In addition a neuropsychological assessment should be done to determine what is are his strengths and weaknesses and help develop a program for teaching him. ...Read more

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Why are high hCG levels an indicator of down syndrome?

Why are high hCG levels an indicator of down syndrome?

See below: As tests were developed to assess the fetal health it was noted that a fetus with down's syndrome had higher maternal HCG levels that a normal child. This came to be part of the test, along with maternal age and ultrasound examination, to asses the risk of having a down's child. ...Read more

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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

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Is it true that high hog levels in early pregnancy is linked to down syndrome?

Is it true that high hog levels in early pregnancy is linked to down syndrome?

Quad Marker Screen: The Quad Marker Screen is done between 15 and 20 weeks of pregnancy in select patients. It looks at levels of AFP, hCG, UE, and Inhibin-A. Low levels of AFP and UE and higher than normal levels of hCG and Inhibin-A COULD indicate that the woman is at higher risk for having a baby with Down's syndrome. It is not even close to 100% accurate (70%-80% at best). ...Read more

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Could high levels of hCG point to down syndrome? Mine were around 245, 000 at 9.2 weeks. Have had ultrasound and only one baby.

Could high levels of hCG point to down syndrome? Mine were around 245, 000 at 9.2 weeks. Have had ultrasound and only one baby.

Range for normal HCG: Levels at 9-12 weeks LMP is 25, 700 – 288, 000 miu/ml, so yours is ok. At 11-14 weeks, a skilled ultrasonographer can determine if there is increased fluid under the skin at the base of the fetus' neck, a sign that other screens or diagnostic tests for ds are neeeded. A "quad" test that measures 4 pregnancy hormones screens for increased risk of certain birth defects including ds at 16-18 weeks. ...Read more

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My maternity 21 test came back positive for down syndrome, but my ultrasound is normal. Will my amnio tomorrow say the same, or different results?

My maternity 21 test came back positive for down syndrome, but my ultrasound is normal. Will my amnio tomorrow say the same, or different results?

Screen vs definitive: When you are trying to test for something in large populations (pregnant women) it is common to screen with a less invasive test and only do the more invasive (and costly) test if the screening suggests a problem. The amnio will get babies cells for study, and the results will be definite. A positive study means ds is present a negative, it is not.. ...Read more

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My LMP is 27apr14 and my beta hCG level on 28may14 found 6805.93mIU/mL and on 30may14 is 14798.49mIU/mL. Is it normal or doubt of down syndrome?

My LMP is 27apr14 and my beta hCG level on 28may14 found 6805.93mIU/mL and on 30may14 is 14798.49mIU/mL. Is it normal or doubt of down syndrome?

Normal: Your HCG levels have appropriately doubled. It is a good sign of a healthy pregnancy. If you are concerned about Down's syndrome, please speak with your doctor regarding early blood tests that will help with diagnosing an abnormal pregnancy like integrated screening or verifi prenatal test. Good Luck! ...Read more

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Why do Down syndrome patient have their eyes slanted upward, is it caused by the chromosome 21, I need an explanation on why their face look different?

Why do Down syndrome patient have their eyes slanted upward, is it caused by the chromosome 21, I need an explanation on why their face look different?

In the genes: All of our features are determined by our genes. The appearance of your eyes, nose, mouth, hair color, skin color, among other features are all inherited. When there is a defect in the gene coding, changes can occur. Facial features can change with in utero exposure such as alcohol (fas syndrome). For downs, the extra 21 causes low ears, slanted eyes, simian crease as well as organ problems. ...Read more

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11weeks pregnant with controlled hypothyroidsm, thyroid levels are verynormal. Down syndrome scan due nextweek. Does being hypothyroid concerns downsyndrome.

11weeks pregnant with controlled hypothyroidsm, thyroid levels are verynormal. Down syndrome scan due nextweek. Does being hypothyroid concerns downsyndrome.

No: There is no connection between hypothyroidism, even if it is uncontrolled, and down's syndrome. Congratulations on your baby, and I hope all is well with the scan next week. ...Read more

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What is down syndrome?

What is down syndrome?

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

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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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Is Down syndrome inherited?

Is Down syndrome inherited?

Not usually: The only way to inherit Down syndrome is if one parent has Down syndrome and passes 2 copies of chromosome 21. Few people with ds reproduce, so that is not usually a factor. ...Read more

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How is down syndrome treated?

How is down syndrome treated?

Medical/education: Children with Downs Syndrome have special medical and educational needs that should be determined in each individual. Doctors and Psychologists or educational specialists can determine what the needs are and how best to meet them. ...Read more

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Why is my baby down syndrome?

Why is my baby down syndrome?

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

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How is Down syndrome treated?

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

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Why does Down syndrome happen?

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

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How is Down syndrome inherited?

How is Down syndrome inherited?

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

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How can you inherit down syndrome?

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

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How do you diagnose down syndrome?

Karyoytype.: Dna analysis or karyotype is diagnostic of Down syndrome both prenatally and postnatally. ...Read more

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Down syndrome is autosomal dominat?

Down syndrome is autosomal dominat?

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

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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?

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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What are the symptoms of down syndrome?

See below: Flat face, hypotonia, and intellectual disability. One third of patients develop congenital heart defect (s). ...Read more

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What are the problems of down syndrome?

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

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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 long do Down syndrome children live?

How long do Down syndrome children live?

Variable: They do die relatively young in the 20s and 30s but they thrive on love just the same as normal kids and their death is unpredictable. ...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