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Doctor insights on: Edwards Syndrome Trisomy 18

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Is angelmans syndrome sex linked?

Is angelmans syndrome sex linked?

No: This is a classic homework question and an important idea. If a child does not have a good copy of ubd3a from mom, the child gets angelman's. If a child does not have a good copy of ubd3a from dad, the child gets prader-willi. This is imprinting and is a subtle concept, unlike the easier idea of sex-linked inheritance. ...Read more

Dr. Oscar Novick
38 doctors shared insights

Edwards Syndrome (Definition)

Edwards Syndrome happens with a frequency 1 in 6000 live births, and is the 2nd most common chromosomal syndrome, where there is an extra copy or part of an extra 18th chromosome. The classic physical findings include prominent occiput, clenched hands, and usually significant structural heart defects. The life span is short with usually severe mental retardation, ...Read more


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2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?

2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?

Maternal fetal medicine: specialist is what you need with your high risk pregnancies, if you don't have one available in your area please seek advice in a teaching hospital ...Read more

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Any genetic counselors! who gets eds?

Any genetic counselors! who gets eds?

Rare problem: Ehlers danlos syndrome is a collection of at least 10 separate entities that have in common an abnormality of collagen production. The inheritance patterns include dominant, recessive, x-linked & has been reported as a new mutation. There is broad variability of expression within each subtype.The prevalence estimates range from 1/5000 to 1/100, 000 depending on type. ...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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Can tourette's syndrome always be genetic?

Can tourette's syndrome always be genetic?

Possibly: Tourette's almost always has a genetic predisposition, but there are also environmental factors that affect the condition. In addition, certain types of brain injury can mimic this condition. ...Read more

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Are pediatric and adult-onset cyclic vomiting syndrome (cvs) different conditions?

Possibly: Cvs in children has much more study behind it than in adults, and therefore, less information to draw from. Recent studies suggest that many of the characteristics of cvs are independent of age. As the cause is still unknown, treatment consists of mainly managing the symptoms. As with all conditions, seek the advice of your physician and internal medicine specialist. ...Read more

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How to wean child with pks syndrome?

How to wean child with pks syndrome?

?: Pks is an extremely rare congenital syndrome; i'm not sure what the question is about weaning with relationship to this. ...Read more

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What is the outcome of a patient with guillain barre syndrome that hast an ankle fracture?

What is the outcome of a patient with guillain barre syndrome that hast an ankle fracture?

Should be good: The outcome of a patient with an ankle fracture should be same as long as it is evaluated properly and treatment initiated. The risk that guillain barre poses are neuropathic - sensory as well as motor. In the event that soft tissue reconstruction is performed as part of the ankle repair, one must keep in mind that sudden contractures can occur and make proper adjustments with fixation for this. ...Read more

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Describe shaken baby syndrome?

Describe shaken baby syndrome?

Shaken baby syndrome: This is a condition now known as abusive head injury, wherein a child experiences injury to the brain due to head trauma. The trauma often results from violent shaking or from blunt force injury to the head. Symptoms may vary from mild to severe, including coma and death. There are certain characteristic findings that may be present on physical exam. Imaging may aid diagnosis. ...Read more

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Pat.With dm and ht present with ischemic cva(> 1/3 MCA distribution) ECG show af. When we start anticoagulant?

Pat.With dm and ht present with ischemic cva(> 1/3 MCA distribution)  ECG show af. When we start anticoagulant?

Good question: There is multitude of factors affecting anticoagulant therapy, patient's current physicians will analyze these factors and they should make the decision. Good luck. ...Read more

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Fragile x syndrome, is it preventable, how?

Fragile x syndrome, is it preventable, how?

Not preventable: while there is no way to prevent fragile X disorder, treatment with folic acid, a vitamin can be helpful with the behaviours if necessary. Behavioral therapy, applied behavioral analysis, A variety of medications are available for symptoms. You should consult a specialist working with children with Fragile X. ...Read more

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Any tests for serotonin syndrome?

Any tests for serotonin syndrome?

Clinical diagnosis : Clinical diagnosis should be more than enough and it is quite clear if someone has a history and the doses took, matching with clinical signs, anytesting will not be relevat a sit gets metabolised in 5hiaa, found in urine nondiagnostic for ss. ...Read more

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Any research on why some people get guillain-barre syndrome , when most don't? Does gbs tend to occur more in families with migraines/epilepsy?

Any research  on why some people get guillain-barre syndrome , when most don't? Does gbs tend to occur more in families with migraines/epilepsy?

Probably autoimmune: Preceding infection, such as flu, seems to trigger the event. The only variant with genetic predisposition is acute motor axonal neuropathy, in japan and china. Antibodies to gangliosides play a role. It is not more prevalent in families with migraines or epilepsy. ...Read more

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Is west syndrome (infantile spasms) hereditary?

Is west syndrome (infantile spasms) hereditary?

Secondarily: Infantile spasms divide broadly into those arising in the context of an identified disorder and those that are not (idiopathic). The spasns themselves are not hereditary, but many of the identified causes can be. See: http://en.Wikipedia.Org/wiki/west_syndrome. ...Read more

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How is ehlers-danlos syndrome painful?

How is ehlers-danlos syndrome painful?

It may not be: It may not be painful at all. It depends on the type you have and what systems are involved. If your joints are involved and are loose then this could increase their mobility and cause pain. Your evaluation will help explain this. ...Read more

Trisomy (Definition)

Ordinary chromosomal traits require a pair of chromosomes to determine the traits. Occasionally, as a mistake in cellular division, there is a tripling of one of the chromosomes. When these occur, they usually cause unpleasant, and sometimes deadly conditions in the inheritor of these traits (e.g. Down's). Many we do not know about as they are ...Read more