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Doctor insights on: Causes Of Di George Syndrome

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What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more

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What type of mutation causes alagille syndrome?

What type of mutation causes alagille syndrome?

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs. ...Read more

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What type of mutation causes barth syndrome?

X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. https://www.barthsyndrome.org/home has information & resources. ...Read more

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What's the incidence of edward syndrome?

What's the incidence of edward syndrome?

One in 6,000: Edwards syndrome occurs in around one in 6, 000 live births and around 80 percent of those affected are female. The majority of fetuses with the syndrome die before birth. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders. ...Read more

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What're the symptoms and causes of stevens-johnson syndrome?

What're the symptoms and causes of stevens-johnson syndrome?

Severe rash from med: Severe skin rash often from drug allergy, esp sulfa drugs, but also can be from connective tissue diseases. ...Read more

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Causes of restless leg syndrome? K+ deficiency?

Causes of restless leg syndrome? K+ deficiency?

RLS: It is a syndrome w/ symptoms of an urge to move the legs especially near bedtime, that improves w/ movement ; is worse @ rest. It typically has uneasy sensations. Besides its relation to low peripheral Dopamine levels ; some to genes, it is unclear why it occurs. Sometimes it may be secondary to other medical issues. It's recommended that you see a sleep medicine specialist to properly evaluate it. ...Read more

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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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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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Is the cause of ramsay hunt syndrome known?

Is the cause of ramsay hunt syndrome known?

Herpes Infection: Ramsy-hunt syndrome is attributed to a herpes infection of the geniculate ganglion. It consists of facial palsy in combination with a herpetic eruption in in the external ear canal. Symptoms may include tinnitus (ringing in the ear), vertigo, deafness plus the facial weakness. ...Read more

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What causes renaulds syndrome?

What causes renaulds syndrome?

Blood vessel spasm: Spasms of small blood vessels can cause this. Sometimes it is a part of an autoimmune disease. Smoking can also cause raynaud's phenomenon . It can be treated by smoking cessation and certain medications such as calcium channel blockers. Certain medications such as beta blockers should be avoided as they can make the symptoms worse. ...Read more

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What causes turner syndrome?

What causes turner syndrome?

Lack of chromosome: Normal humans have 22 pairs of regular chromosomes (chms) and one pair of sex chms .At conception you are supposed to get one of each pair from each parent. If one of the sex (X) chms is lost from the egg, the fetus (which can survive the mistake) will be born with 22 pr of regular chms and only one X.The defect occurs in the formation of the egg. The effect on the kid varies. ...Read more

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What causes patau syndrome?

What causes patau syndrome?

Extra chromosome 13: Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. Symptoms include polydactyly, holoprosencephaly, coloboma of the iris, scalp defect, clenched, overlapping fingers, many midline defects, severe mental retardation, short life spans(<1yr avg) ...Read more

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What causes patau syndrome?

What causes patau syndrome?

It's not: Patau syndrome arises from a non-disjunction event prevents the 18 chromosome from dividing its pair & sends 2, not one to the egg. At conception the sperm brings along another 18 & there ends up being 3. The presence of the extra 18 causes the developing fetus to misread the genetic instructions and many defects occur. ...Read more

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What causes wernicke-korsakoff syndrome?

What causes wernicke-korsakoff syndrome?

Alcohol: It is a syndrome of chronic alcoholism, or rarely thiamine deficiency from other causes). ...Read more

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Docs, could 50mg of 5htp cause serotonin syndrome?

Docs, could 50mg of 5htp cause serotonin syndrome?

Serotonin syndrome: This is a rare but possibly life threatening problem that occurs when a serotonin medication or substance is added or dose increased or both. It is essentially a poisoning effect and the increases/combinations are more a reason for it to happen. Some people are more sensitive to others. It is not defined by a set amount of substance/medication but to answer question, unlikely with one dose/amount ...Read more

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What kind of chromosomal mutation causes the cri du chat syndrome?

What kind of chromosomal mutation causes the cri du chat syndrome?

Chromosome deletion: Cri du chat is a rare genetic disorder to to chromosome deletion on chromosome 5. See the good discussion of it here: https://en.wikipedia.org/wiki/Cri_du_chat Here's a great organization formed to educate and support: https://fivepminus.org/ ...Read more