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Doctor insights on: Is Gender A Factor In Down Syndrome

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Is Down syndrome always caused by a defect in the 21 chromosome?

Is Down syndrome always caused by a defect in the 21 chromosome?

Extra chromosome 21.: Either complete or partial trisomy for chromosome 21 is always responsible for down syndrome. ...Read more

Dr. Kathryn Akin
656 doctors shared insights

Down Syndrome (Definition)

A genetic Chromosome 21 disorder causing ...Read more


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What is the risk of Down syndrome in a 50 year old woman?

What is the risk of Down syndrome in a 50 year old woman?

1/12: Data from a new york state study put the risk at 1 in 12 for age 49. I found no later estimates. ...Read more

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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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Is it true that the chances of having a child with a chromosomal abnormality increases as a womans age increases over 40 year?

Is it true that the chances of having a child with a chromosomal abnormality increases as a womans age increases over 40 year?

Yes: It actually increases to a small degree with every year after peak fertility in the mid 20's. At 40 the risk of a trisomy 21 down syndrome reaches 1% while at 45 it reaches 2%. This number is added to the random risk of 4% that any pregnancy has of an unexpected event (cleft palate, premi, other defect). ...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 is a factor that has contributed to the global increase in obesity?

What is a factor that has contributed to the global increase in obesity?

Too many 2 count: Where to start? Convenience foods, fast foods, commercial advertising for soda etc... Decrease in the importance of sit down family dinners... Obesity is a multifactoral problem with many causes that we have yet to identify. Fixing the obesity epidemic is also going to have to be tackled from several different angles.. ...Read more

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Is this trisomy 22 caused from one of the parents havinga genetic disorder?

Is this trisomy 22 caused from one of the parents havinga genetic disorder?

22 or 21 whatever ?: Trisomy's are causes by an abnormality at conception. The egg & sperm are both expected to bring one chromosome from each of the parents 23 pairs.If an extra comes along in the egg or sperm (usually egg), the joining produces 22 pairs & one triplet or trisomy.Chromosomes carry the genes. Too many genes confuse the cell. Some lump this with gene disorders because gene docs follow the patients ...Read more

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Is their a gene specifically associated with the hypermobile form of ehleres- danlos syndrome? And is it one that is able to be tested ?

Is their a gene specifically associated with the hypermobile form of ehleres- danlos syndrome? And is it one that is able to be tested ?

See geneticist!: Type 3: hypermobility form - ehlers-danlos is caused by an autosomal dominant or recessive mechanism. Mutations in either of two separate genes (which are also involved in vascular eds and tenascin-x deficiency eds, respectively) may lead to this variant. Tnxb sequencing or quantitative serum tenascin-x analysis or testing of eds-associated genes, especially col3a1can be done. ...Read more

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Is Down Syndrome a sex linked chromosomal disease?

Is Down Syndrome a sex linked chromosomal disease?

No: Down syndrome is an abnormality of chromosome numbers, not a mutation on a sex chromosome. During conception only one of chromosome of each pair is given by both parents to the fertile egg.If a parent adds their 2 # 21 chm to the other parents # 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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Is there a genetic test in UK that can tell if a person is a poor metabolizer with Clopidogrel having two copies of each of the CYP2C19 gene.?

Is there a genetic test in UK that can tell if a person is a poor metabolizer with Clopidogrel having two copies of each of the CYP2C19 gene.?

Phenotype is the big: issue, not genotype, because we each live with the complex results of both genotype combined with all our complex internal controls, beyond the any gene or sets of genes alone. Since clopidgrel is a platelet suppressing, clot-slowing agent, best check clotting with & without whatever trial dosage. The best of the clotting tests is TEG, study: Thromboelastography, commonly used in hospitals. ...Read more

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Why is there a 50% chance of a woman with Down syndrome producing a normal baby?

Why is there a 50% chance of a woman with Down syndrome producing a normal baby?

Laws of genetics: When a woman with Down's Syndrome forms gametes (unfertilized eggs), all the chromosomes except #21 will split evenly. Since Down's Syndrome means three copies of chromosome 21 (by dehfinition), the chromosome cannot split "evenly" - half will have 1 copy (normal); the other half will have 2 copies (Down's syndrome carrier). These will pair with 1 copy (usually) of Chromosome 21 from the father. ...Read more

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When a child is born with extra chromosomes is that a genetic trait from the father side or the mother side? Or can it go both ways?

When a child is born with extra chromosomes is that a genetic trait from the father side or the mother side? Or can it go both ways?

Both but not a trait: During formation of either egg or sperm (gametes), the chromosome (c) pairs that make up the normal cell separate & each gamete is supposed to have 1/2 of a pair. If any pair does not separate, three rather than a pair of that c be in the embryo. Having an extra c in every cell of the fetus confuses development.Miscarriage or birth defects often occur.This is not a trait but an error in whole cms. ...Read more

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What is a major factor in low birth weight?

What is a major factor in low birth weight?

Major Factor: Low birth weight has multiple causes. Utero placental insufficiency being the ultimate culprit. In truth there are many major factors that cause low birth weight. In our present day, in our community i must say that the major factor responsible for lbw is cigarette smoking. ...Read more

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Is there a particular chromosome XYY Syndrome is located? and is it recessive or dominant?

Is there a particular chromosome XYY Syndrome is located? and is it recessive or dominant?

No: XYY syndrome is neither autosomal dominant or recessive. See a geneticist about inheritance patterns. It is often causes by chromosome nondysjunction (lack of separation). There is not a particular chromosome but the sex chromosomes are called X and Y. Females typically are XX and Males XY. XYY is causes by a Y chromosome separation issue. XYY individuals are usually normal males ...Read more

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Is there a type of mosaic Down syndrome that doesn't require the mutation to come from either parent to have a downs child?

Yes: A mosaic down syndrome child can come from a normal egg and normal sperm, produced by normal parents. The fertilized egg would start out normal with 46 chromosomes. It can divide into 2 normal cells, which themselves divide again. If on one of the early divisions, one cell ends up with an extra #21 chromosome and survives to continue dividing, the child will be mosaic with some trisomy 21 cells. ...Read more

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If baby's heart rate is low is it a sign of down syndrome?

If baby's heart rate is low is it a sign of down syndrome?

Bradycardia: While children with downes syndrome may have a slow heart rate, there are many other causes of slow heart rate, such as hypothyroidism and others. Down's syndrome is best characterized by the constellation of associated characteristics and chromosomal abnormality. ...Read more

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Why does atherosclerosis run in families? Is it just a gene that runs through and you just naturally develop cardiovascular disease or is it because of the risk factors that run in families?

Why does atherosclerosis run in families? Is it just a gene that runs through and you just naturally develop cardiovascular disease or is it because of the risk factors that run in families?

Genetics: High cholesterol, high blod pressure and other risks factors are genetically determined and may be responsible for early onsetnheart disease. That said, may risk factors such as obesity or smoking can be modified and lower your overall risk. ...Read more

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