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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
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
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
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 2 more doctor answers
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 moreSee 1 more doctor answer
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
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 moreSee 3 more doctor answers
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 moreSee 1 more doctor answer
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
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
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
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
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
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
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