Down Syndrome

What a difference an extra chromosome can make. Here we explore the misconceptions -- as well as the ups and downs -- of Down Syndrome, a congenital genetic disorder that is caused by the presence of an extra 21st chromosome. The affected person is mildly to moderately handicapped, short in stature, and has a flattened facial profile.

2,627 Questions
Down Syndrome

Is Down syndrome hereditary?

  • The majority of Down syndrome cases are not hereditary. Only in cases of Translocation Down syndrome is this then possible. These inherited cases then occur because one of the parents is a carrier. A carrier will have 45 chromosomes instead of 46 but they will have all the genetic material of a person with 46 chromosomes. Remember that in Translocation Down syndrome the extra chromosome 21 material is located on a different chromosome. A carrier will have the extra material but will have only one chromosome 21. The carrier will not exhibit any of the symptoms of Down syndrome because they have the correct amount of genetic material. However, a carrier will have an increased chance of having a child with Down syndrome. If the carrier is the mother, the chances are approximately one in five of having a child with Translocation Down syndrome, but if the carrier is the father, the odds are 1 in between 20 and 50. In cases where the carrier has no unattached chromosome 21, all the carriers' children will have Down syndrome.
  • The ability to have children varies among people with Down syndrome (generally they have a reduced rate of fertility). Down syndrome is also known as trisomy 21 and happens when you have three chromosomes instead of two on the 21st 'pair.' This happens when there is an error in cell division and instead of 46 chromosomes dividing into two new cells with 23 each, one of the new cells will have 24 (and therefore the extra '21' chromosome). So it's not really a hereditary thing -- the chances of giving birth to a child with Down syndrome increases after the age of 35 or so, and in general the odds are 1 in 800 of having a child with Down syndrome.
  • It is mostly caused by an accident of gene formation. A small percent is hereditary.
  • It is a genetic abnormality, but not inherited, per se.
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Down Syndrome
English Spelling and Pronunciation

Can you drive a car if you have Down syndrome?

== == A person with a mild case of Down syndrome should be allowed to drive.

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Down Syndrome
Special Needs Children

What is Down syndrome?

No. But males are more likely to have this disorder.

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Conditions and Diseases
Down Syndrome
English Spelling and Pronunciation

What is wallenburg syndrome?

A complex of symptoms caused by occlusion of the posterior inferior cerebellar artery or one of its branches supplying the lower portion of the brain stem, resulting in sensory and sympathetic disturbances, cerebellar and pyramidal tract signs, and evidence of partial involvement of the fifth, ninth, tenth, and eleventh cranial nerves.

Onset is usually acute with severe vertigo due to involvement of the region of Deiter's nucleus, which may result in falling. Nausea, vomiting, ipsilateral ataxia, mucular hypertonicity, pastpointing, lateropulsion, and other cerebellar signs are often present. Pain and facial paresthaesia, a coarse spontaneous homolateral nystagmus, hiccough, dysphagia, dysphonia, dysarthria, and diplopia may be evident. Horner's syndrome is usually present. Sensory disturbances include ipsilateral loss of pain and temperature perception of the face and contralateral hypoesthaesia for pain and temperature of the trunk and extremities. The affected persons have difficulty in swallowing. Persons well over 40 years of age are most often affected.

It was first described in 1808 by the Geneva physician Gaspard Viesseux (1746-1814), who rendered an exact description of his own disease at a meeting of the Société médicochirugicale de Genève. Olivier and de Morsier in the archives of this society found a report written by Gaspard Viessueux that they published in 1943. The case was published by Alexandre John Gaspard Marcet (1770-1824) in London in 1811 after Viesseux had visited London and reported of his disease there. First description by Wallenberg in 1895 (clinical) and 1901 (autopsy findings).

Bibliography:

* A. Marcet:

A chemical account of various dropsial fluids etc.

Medico-Chirurgical Transactions, 1811, 2: 215.

The title is not certain.

* A. Wallenberg:

Acute Bulbäraffection (Embolie der Arteria cerebelli posterior inferior sinistra?).

Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1895, 27: 504-540.

Anatomischer Befund ein einem als «acute Bulbäraffection (Embolie der Arteria cerebelli posterior inferior sinistra.)» beschriebenen Falle.

Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1901, 34: 823.

* J. Olivier, G. de Morsier, in:

Revue médicale de la Suisse romande, Lausanne, 1943, 63: 421.

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Health
Conditions and Diseases
Down Syndrome

What are alternative names for Down syndrome?

== == * Down syndrome is also known as Trisomy 21. In years gone by, it was also known as Mongolism, although that term is no longer used.

* It has also been called "Up syndrome" by some people, because children with Down syndrome tend to be happy a lot.

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Conditions and Diseases
Arthritis
Down Syndrome
Gastrointestinal Tract

Is there a cure for reiter's syndrome?

yes there is

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Down Syndrome

What are genetic syndromes?

A genetic syndrome simply defined is: a disease caused by an abnormality in an individual's genetic make-up.

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Health
Conditions and Diseases
Down Syndrome

What is meniere's syndrome?

Menier's disease is a life-disturbing disorder/disease of the inner ear that is characterized by a triad of symptoms, including severe vertigo, hearing loss, and tinnitus (ringing in the ear). The exact cause of the disease is unknown, however it has to do with an imbalance of the endolymphatic fluid located in the cochlea (the sensory organ of hearing).

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Down Syndrome

Who does down syndrome affect the most?

the brain

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Conditions and Diseases
Country Music
Down Syndrome
Fetal Alcohol Syndrome and Alcohol Consumption During Pregnancy

What is Father Gill's syndrome?

Father Gill's syndrome should not be confused with Mother Gill's syndrome a closely related illness. Father Gill's Syndrome stems from a severe neurological disorder that ultimately causes an unexpected and extremely painful death. Symptoms include:

Nervousness while taking tests

Feeling cold from time to time

Craving chocolate

Numbness in fingers or eyes

Hairy moles

Green feces

Change in odor or flavor of breath

Excessive gas

Hair loss or wrinkles

If you exhibit any or all of these symptoms, do not consult a doctor - you do not have time to waste. Live your life while you can.

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Health
Conditions and Diseases
Down Syndrome

Why is Down syndrome called Down syndrome?

because it was first described by an English scientist JOHN LANG DON DOWN in 1886

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Down Syndrome

Does Down Syndrome causes childlike behavior?

yes it causes childlike symptoms

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Down Syndrome
Glee (TV Series)

Does Brittany from glee have down syndrome?

No, Brittany is just dumb. Becky and Sue's sister have Down's Syndrome.

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Demographics
Down Syndrome

How long do down syndrome people live?

They can live above 40years but it base on food they are eating, they should avoid waterly food and alcoholic drinks.

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Pregnancy Health and Safety (Prenatal Care)
Conditions and Diseases
Autism
Down Syndrome

What is hellp syndrome?

HELLP syndrome is a life-threatening http://www.answers.com/topic/obstetrics complication considered by many to be a variant of http://www.answers.com/topic/pre-eclampsia. Both conditions occur during the latter stages of http://www.answers.com/topic/pregnancy, or sometimes after http://www.answers.com/topic/childbirth. HELLP is an abbreviation of the main findings: * http://www.answers.com/topic/hemolysis

* Elevated http://www.answers.com/topic/liver-function-tests-1 and

* http://www.answers.com/topic/thrombocytopenia-7

Often, a patient who develops HELLP syndrome has already been followed up for http://www.answers.com/topic/pregnancy-induced-hypertension (gestational hypertension), or is suspected to develop http://www.answers.com/topic/pre-eclampsia (high blood pressure and http://www.answers.com/topic/proteinuria). Up to 8% of all cases present after delivery. There is gradual but marked onset of http://www.answers.com/topic/headache (30%), blurred vision, http://www.answers.com/topic/malaise-10 (90%), http://www.answers.com/topic/nausea-14/vomiting (30%), "band pain" around the upper http://www.answers.com/topic/abdomen (65%) and tingling in the extremities. http://www.answers.com/topic/edema may occur but its absence does not exclude HELLP syndrome. http://www.answers.com/topic/hypertension-20 is a diagnostic requirement, but may be mild. Rupture of the liver capsule and a resultant http://www.answers.com/topic/hematoma may occur. If the patient gets a http://www.answers.com/topic/seizure or http://www.answers.com/topic/coma, the condition has progressed into full-blown http://www.answers.com/topic/eclampsia. Patients who present symptoms of HELLP can be misdiagnosed in the early stages, increasing the risk of liver failure and morbidity (Padden, 1999). rarely post caesarean patient may present in shock condition mimicking either pulmonary embolism or reactionary haemorrhage. In a patient with possible HELLP syndrome, a batch of http://www.answers.com/topic/blood-test is performed: a http://www.answers.com/topic/full-blood-count, http://www.answers.com/topic/liver-function-tests-1, http://www.answers.com/topic/renal-function and http://www.answers.com/topic/electrolyte and http://www.answers.com/topic/coagulation studies. Often, http://www.answers.com/topic/fibrin degradation products (FDPs) are determined, which can be elevated. http://www.answers.com/topic/lactate-dehydrogenase is a marker of hemolysis and is elevated (>600 U/liter). http://www.answers.com/topic/proteinuria is present but can be mild. The http://www.answers.com/topic/platelet count has been found to be moderately predictive of severity: under 50 million/L is class I (severe), between 50 and 100 is class II (moderately severe) and >100 is class III (mild). This system is termed the Mississippi classification (Martin et al 1990). The exact cause of HELLP is unknown, but general activation of the coagulation cascade is considered the main underlying problem. Fibrin forms crosslinked networks in the small http://www.answers.com/topic/blood-vessel. This leads to a http://www.answers.com/topic/microangiopathic-hemolytic-anemia: the mesh causes destruction of http://www.answers.com/topic/red-blood-cell as if they were being forced through a strainer. Additionally, http://www.answers.com/topic/platelet are consumed. As the http://www.answers.com/topic/liver appears to be the main site of this process, downstream liver cells suffer http://www.answers.com/topic/ischemia, leading to periportal necrosis. Other organs can be similarly affected. HELLP syndrome leads to a variant form of http://www.answers.com/topic/disseminated-intravascular-coagulation (DIC), leading to paradoxical http://www.answers.com/topic/bleeding, which can make emergency surgery a serious challenge. The only effective treatment is delivery of the baby. Several medications have been investigated for the treatment of HELLP syndrome, but evidence is conflicting as to whether http://www.answers.com/topic/magnesium-sulfate decreases the risk of seizures and progress to eclampsia. The DIC is treated with http://www.answers.com/topic/fresh-frozen-plasma-1 to replenish the coagulation proteins, and the http://www.answers.com/topic/anemia may require http://www.answers.com/topic/blood-transfusion. In mild cases, http://www.answers.com/topic/corticosteroid and http://www.answers.com/topic/antihypertensive (http://www.answers.com/topic/labetalol, http://www.answers.com/topic/hydralazine, http://www.answers.com/topic/nifedipine) may be sufficient. Intravenous fluids are generally required. Its incidence is reported as 0.2-0.6% of all pregnancies. Of women with (pre)eclampsia, 4-12% also develop signs of a "superimposed" HELLP syndrome. Mortality is 7-35% and perinatal mortality of the child may be up to 40%. HELLP usually begins during the third trimester, and usually in Caucasian women over the age of 25. (Padden, 1999.) Rarely, cases have been reported as early as 23 weeks gestation.

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Down Syndrome

What is the meaning of 'epicanthic' in reference to someone with Down syndrome?

The "epicanthic fold" -- also called epicanthus -- is a fold of skin on the upper eyelid that partially covers the inner corner of the eye. Some people with Down syndrome manifest such a fold.

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Parenting and Children
Down Syndrome
Chris Rock

Should you hit your kids?

For the past several years, many psychiatrists, sociological researchers, and parents have recommended that we seriously consider banning the physical punishment of children. The most important reason, according to Dr. Peter Newell, coordinator of the organization End Punishment of Children (EPOCH), is that "all people have the right to protection of their physical integrity, and children are people too."

1. Hitting children teaches them to become hitters themselves. Extensive research data is now available to support a direct correlation between corporal punishment in childhood and aggressive or violent behavior in the teenage and adult years. Virtually all of the most dangerous criminals were regularly threatened and punished in childhood. It is nature's plan that children learn attitudes and behaviors through observation and imitation of their parents' actions, for good or ill. Thus it is the responsibility of parents to set an example of empathy and wisdom.

2. In many cases of so-called "bad behavior", the child is simply responding in the only way he can, given his age and experience, to neglect of basic needs. Among these needs are: proper sleep and nutrition, treatment of hidden allergy, fresh air, exercise, and sufficient freedom to explore the world around him. But his greatest need is for his parents' undivided attention. In these busy times, few children receive sufficient time and attention from their parents, who are often too distracted by their own problems and worries to treat their children with patience and empathy. It is surely wrong and unfair to punish a child for responding in a natural way to having important needs neglected. For this reason, punishment is not only ineffective in the long run, it is also clearly unjust.

3. Punishment distracts the child from learning how to resolve conflict in an effective and humane way. As the educator John Holt wrote, "When we make a child afraid, we stop learning dead in its tracks." A punished child becomes preoccupied with feelings of anger and fantasies of revenge, and is thus deprived of the opportunity to learn more effective methods of solving the problem at hand. Thus, a punished child learns little about how to handle or prevent similar situations in the future.

4. The phrase "Spare the rod and spoil the child" is not from the Bible but from Samuel Butler's "Hudibras", a 17th Century satirical poem. The poem, like his novel, The Way of All Flesh, was written to expose and denounce violence against children.

While the "rod" is mentioned many times in the Bible, it is only in the Book of Proverbs that this word is used in connection with parenting. The book of Proverbs is attributed to Solomon, an extremely cruel man whose harsh methods of discipline led his own son, Rehoboam, to become a tyrannical and oppressive dictator who only narrowly escaped being stoned to death for his cruelty. In the Bible there is no support for harsh discipline outside of Solomon's Proverbs. By contrast, the writings in the Gospels, the most important books in the Bible for Christians, contain the teachings of Jesus Christ, who urged mercy, forgiveness, humility, and non-violence. Jesus saw children as being close to God, and urged love, never punishment.

5. Punishment interferes with the bond between parent and child, as it is not human nature to feel loving toward someone who hurts us. The true spirit of cooperation which every parent desires can arise only through a strong bond based on mutual feelings of love and respect. Punishment, even when it appears to work, can produce only superficially good behavior based on fear, which can only take place until the child is old enough to resist. In contrast, cooperation based on respect will last permanently, bringing many years of mutual happiness as the child and parent grow older.

6. Many parents never learned in their own childhood that there are positive ways of relating to children. When punishment does not accomplish the desired goals, and if the parent is unaware of alternative methods, punishment can escalate to more frequent and dangerous actions against the child.

7. Anger and frustration which cannot be safely expressed by a child become stored inside; angry teenagers do not fall from the sky. Anger that has been accumulating for many years can come as a shock to parents whose child now feels strong enough to express this rage. Punishment may appear to produce "good behavior" in the early years, but always at a high price, paid by parents and by society as a whole, as the child enters adolescence and early adulthood.

8. Spanking on the buttocks, an erogenous zone in childhood, can create in the child's mind an association between pain and sexual pleasure, and lead to difficulties in adulthood. "Spanking wanted" ads in alternative newspapers attest to the sad consequences of this confusion of pain and pleasure. If a child receives little parental attention except when being punished, this will further merge the concepts of pain and pleasure in the child's mind. A child in this situation will have little self-esteem, believing he deserves nothing better. For more on this topic, see "The Sexual Dangers of Spanking Children".

9. Even relatively moderate spanking can be physically dangerous. Blows to the lower end of the spinal column send shock waves along the length of the spine, and may injure the child. The prevalence of lower back pain among adults in our society may well have its origins in childhood punishment. Some children have become paralyzed through nerve damage from spanking, and some have died after mild paddlings, due to undiagnosed medical complications.

10. Physical punishment gives the dangerous and unfair message that "might makes right", that it is permissible to hurt someone else, provided they are smaller and less powerful than you are. The child then concludes that it is permissible to mistreat younger or smaller children. When he becomes an adult, he can feel little compassion for those less fortunate than he is, and fears those who are more powerful. This will hinder the establishment of meaningful relationships so essential to an emotionally fulfilling life.

11. Because children learn through parental modeling, physical punishment gives the message that hitting is an appropriate way to express feelings and to solve problems. If a child does not observe a parent solving problems in a creative and humane way, it can be difficult for him to learn to do this himself. For this reason, unskilled parenting often continues into the next generation.

Gentle instruction, supported by a strong foundation of love and respect, is the only truly effective way to bring about commendable behavior based on strong inner values, instead of superficially "good" behavior based only on fear.

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Down Syndrome

What is turner's syndrome?

It is a chromosomal abnormaility characterized by offspring with short stature, lymphoedema, widely spaced nipples, low hairline, low setted ear and obesity. They may not have menstrual period thus may be sterile. Other symptoms may include a small lower jaw, turned-in elbows, a webbed neck, soft upturned nails and drooping eyelids. Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms.

It is caused by abnormal splitting of the egg during Anaphase II of Oogenesis leading to 45 XO chromosomal make up instead of 46 XX or 46 XY.

The female chromosomes (the BARR BODY) is not present and so the X is donated by the sperm (male).

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Down Syndrome

Is Downs syndrome a dominant or a recessive allele?

Down syndrome is not an allele. It is caused by a triplication of the 21st chromosome in the baby. Eggs and Sperm all have 1 copy of each chromosome so that the baby ends up with 46 chromosomes, 23 from mom and 23 from dad. Down syndrome happens when either the egg or sperm had 2 copies of the 21st chromosome, which when paired with the normal egg or sperm, there ends up being 3 copies of 21st.

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Demographics
Down Syndrome
Population

How many people in the world have Down syndrome?

World-wide, over 5.8 million people have Down syndrome. (This condition affects people of all ages, races, religions and economic situations.)

Approximately 1 in every 1,000 babies has Down syndrome.

In the UK

It is estimated that there are about 60,000 people with Down syndrome living in the UK. About 600 babies with Down syndrome are born in the UK each year.
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Men's Health
Conditions and Diseases
Down Syndrome

What is aging male syndrome?

Aging Male Syndrome (AMS) is a medical condition through which all men will pass through between the ages of 35 and 65, when the testosterone levels in their blood declines considerably. For those who don’t know much about testosterone, it is a sex hormone that is instrumental in developing male characteristics in an individual such as facial and body hair, muscle growth, and a deep voice. Its other activities include promoting sex drive and sperm production. When a dip in the testosterone secretion occurs, all these factors, especially sexual instincts, suffer significantly, the symptoms of it will be discussed in the following paragraphs. But, there is nothing to worry as aging male syndrome (AMS) only reduce or decrease the existing sexual potential and never kills it. The lost libido can be regained to a good extent by treating the condition promptly. The symptoms of aging male syndrome are quite perceptible. Men suffering from lower testosterone levels invariably exhibit one or many of these symptoms, which include sleeping troubles, lower sex drive, erectile dysfunction, increased urination, muscle loss, inability to focus, hair loss, and osteoporosis. But, the appearance of some of these symptoms can be due to other issues as well, such as issues with hypothalamus, pituitary glands, or the testicles itself, and hence, it is advisable to consult a specialist – an endocrinologist or urologist - before running oneself into any conclusions or even start worrying about AMS. Aging male syndrome is usually diagnosed by testing the blood for testosterone levels. This test can be done in any clinic and does not require the service of a specialist. If you feel that a specialist consultation is necessary, you can ask the primary care physician about a referral to an urologist or endocrinologist. A specialist could specifically tell you what had gone wrong and what all can be done to get back on track. The usual treatment methods for aging male syndrome include testosterone injections, testosterone patches, which one can stick on their skin, and testosterone gels, which is a clear gel that the patient has to rub on his palm every morning. In the latter two cases, the testosterone content will be gradually absorbed into the blood from the skin surface. Regarding which method to follow, one is free to discuss it with his/her doctor before opting for the optimal sounding one. See the web for further info on aging male syndrome and its treatment methodologies. It is important to read and learn about one's own sexual health and its various dimensions. Remember, knowledge is power, and ignorance is evil. "Andropause" is the name for what they use to call "Midlife crisis" in men. It generally begins at 40 where men may dress different (younger) get a knew hairstyle, act younger, buy a sportier car, or some men may just get depressed, lethargic, moody and experience hot/cold flashes just like women in menopause. As the above poster said it's Testosterone levels and it's best to get a good check-up from your doctor.

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Down Syndrome

How can Down syndrome affect a person's life?

=== === People who have Down syndrome are usually treated differently because they can't talk properly, in addition to other differences. Down syndrome usually makes it harder for someone to learn, but it's really good for them to keep active.

My brother has Down syndrome and he is so outgoing; he doesn't care what people think of him and that's how most Down syndrome people are. They have their days, like everyone else. They're nice, but can also be mean.

My brother can't talk right. Some people are so nice to him, but others can just be so mean! But, as I said before, he doesn't care at all; he is still his regular self.

That's basically all I know. But just be nice to all special-needs people -- they are just like us!

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Down Syndrome

How is cockayne syndrome passed down from parent to offspring?

CS is inherited in an autosomal recessive pattern. In order for a child to be affected by CS, he or she must inherit a mutation (-) in the same CS gene from both parents. The parents and other "carriers" of a single CS gene mutation remain healthy. Once a couple are known to carriers, they have a 1 in 4 (25%) chance of having another child with CS.

http://www.cockaynesyndrome.net/main/AboutCS.aspx

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Down Syndrome
Aspergers Syndrome

Is there any link between Aspergers and Down syndrome?

No.

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Down Syndrome

What is marphans syndrome?

Marphan's Syndrome is characterized by a deficit in the collogen of the aorta that results in a higher risk for getting a aortic aneurysm.

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