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Doctor insights on: What Is Clinical Genetics

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What is clinical genetics?

What is clinical genetics?

Clinical genetics: Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, down syndrome, others. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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What’s the difference between medical and clinical genetics?

What’s the difference between medical and clinical genetics?

Genetics: Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others.Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, nutritionists, other. ...Read more

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What is the definition or description of: clinical genetics?

What is the definition or description of: clinical genetics?

An ABMS member: The American College of Medical Genetics has subspecialties of Clinical Genetics, Biochemical Genetics, Molecular Genetics and Cytogenetics. Clinical geneticists may identify whether a disease has a genetic basis. The mechanism may be found, which allows the discovery of new treatments and even prevention, and informing family who may be at risk. We have just begun to cure Gaucher disease ...Read more

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What is the difference between a clinical geneticist and a genetic counsellor?

What is the difference between a clinical geneticist and a genetic counsellor?

Let me explain: The counseling of individuals, and of prospective parents regarding their offspring, on the probabilities, dangers, diagnosis, and treatment of inherited diseases. A geneticist is a biologist who studies genetics and research it. ...Read more

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Epicanthal folds - toddler - medical genetics?

Epicanthal folds - toddler - medical genetics?

Maybe: Epicanthal folds are normal in asian races. Outside of asia, epicanthal folds can be part of down syndrome or other syndromes. Epicanthal folds alone may not be reason for a medical genetics referral. If other anomalies are present (low set ears, joint/bone disorders, low iq, webbed nec), then referral is certainly warranted. ...Read more

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Dr. Jesus Yap Dr. Yap
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Should I consider clinical genetic testing for dilated cardiomyopathy?

Dr. Jesus Yap Dr. Yap
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Should I consider clinical genetic testing for dilated cardiomyopathy?

Personal choice: Genetic testing in idiopathic cardiomyopathy is a personal choice to be made by each person considering that there is no treatment nor does the information other than genetic counseling does not impact treatment. The common form cause by mutation of genes of muscle proteins(sarcomeres ) is autosomal dominant 50/50 chance. The X linked only the male gets it .The mother is the carrier ...Read more

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Hi, i have problem with lipomas, j have a lot, over 100, it,s genetics problem. What should i change??

Hi, i have problem with lipomas, j have a lot, over 100, it,s genetics problem. What should i change??

Multiple familial: multiple familial lipomatosis is an autosomal dominant disorder usually with generational 1st degree relatives affected. Lipomas are asymmetric and not associated with any other symptoms. If one person alone is affected it likely is a new mutation. Surgical removal for cosmetic reasons is indicated. ...Read more

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Why am i allergic to grain products? Is it genetics?

Why am i allergic to grain products? Is it genetics?

It may or may not be: It may be genetic in some and not in others.If you have family history of allergic to certain foods than it may be genetic.But you can not be allergic to all grain products.I will recommend you see an allergist to find out what if any grains you are allergic to, as treatment is not to eat what you are allergic to most of the time with some exceptions. ...Read more

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What are the genetics of sma?

What are the genetics of sma?

More than one type: Spinal muscular atrophy of infants, before the gene was identified, was called Werdnig-Hoffman disease. Pitiful-we always looked at the tongues of floppy babies hoping it wasn't fasciculating. No treatment, breathing muscles progressively weakened, resulting in suffocation. 1 chance in 4 of recurrence-maybe. 2% were mew mutations. Kugleberg-Weilander disease had onset after 12 mo. Now 7 forms ...Read more

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How would find a genetics counselor?

How would   find a genetics counselor?

Pre-or postnatal?: Prenatal genetic counselors are usually housed with perinatologists, OB specialists. Geneticists are usually faculty in pediatrics departments of medical schools. Try http://www.Geneclinics.Org or http://www.Nsgc.Org. ...Read more

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Can you advise for genetics- genotypes?

Can you advise for genetics- genotypes?

Genetic makeup: A genotype is the genetic composition of variants at a single gene. We have pairs of all 20,000 genes save the X-chromosome. If a genetic disorder is caused by 2 abnormal genes, the genotype analysis will reveal whether zero, one, or two abnormal jeans are present. Other disorders are caused by a single abnormal gene, also detected by genetic analysis. ...Read more

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Help can cholecystitis be due to genetics?

Help can cholecystitis be due to genetics?

Yes: Anyone can get cholecystitis. The traditional teaching about who is at higher risk is the 5 'F''s. Fertile (many post partum women) Fat (no explaination needed) Forty (same) Female (same, probably due to #1) Familial Certain ethnic groups seem to have a higher incidence as well as those with sickle disease or trait ...Read more

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Is tolerance for alcohol based on your genetics?

Is tolerance for alcohol based on your genetics?

Partially it is.: Some people will naturally have a higher tolerence for alcohol, factors such as family history of alcoholism, certain ethnic groups may have a higher or lower tolerence. People do metabolize alcohol at different rates. Also people who tend to drink excessivly just become more tolerant to alcohols effects more than people who don't, becoming more tolerant is a risk factor for alcoholism. ...Read more

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Can you tell me about the genetics of hemophilia?

Sex linked: Classic hemophilia is sex linked. The gene is on the X-chromosome. With rare exceptions, only men have the disease. Women carriers transmit the defective gene to half their sons. Consult this site for more info. https://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/ ...Read more

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I would like help with genetics linkage problems?

I would like help with genetics linkage problems?

Please explain: Linkage of two genes means that they are located on the same chromosome, and these days we can measure exactly how far apart they are. During gamete formation, crossing-over occurs between sister chromosomes, so that two mutations that were linked may be separated in the gamete. If you have a medical question with regard to linkage, feel free to contact me. ...Read more

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What's family history most useful for in genetics?

What's family history most useful for in genetics?

Who, what, how: A 3- generation family history helps geneticists answer parents' questions, whether they have an affected child or are planning a pregnancy. A "genogram, " (schematic drawing) shows the pattern of inheritance of the medical/ behavioral/ developmental problems in question, so the risk of other family members' developing the disorder ( now or in future generations) can be explained. ...Read more

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Can you tell me more about genetics, sleep related.?

Can you tell me more about genetics, sleep related.?

No: Since the difficult these people have with sleep are usually not genetic. I know of no inherited disorders of sleep,other then sleep-walking may run in families. ...Read more

Dr. Richard Roberts
75 doctors shared insights

Clinical Genetics (Definition)

The American College of Medical Genetics has many subspecialties. Clinical geneticists may identify whether a disease has a genetic basis. The mechanism may be found, which then opens a window to the discovery of new treatments and even prevention, as well as informing family who may be at risk. We have just begun to cure Gaucher disease and have a huge impact ...Read more