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Medical genetics information


Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Autosomal dominant and autosomal recessive inheritance, the two most common Mendelian inheritance patterns. An autosome is any chromosome other than a sex chromosome.

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Medical genetics

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Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics...

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Medical genetics of Jews

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The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average...

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American Journal of Medical Genetics

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Journal of Medical Genetics Part A American Journal of Medical Genetics Part B: Neuropsychiatric Genetics American Journal of Medical Genetics Part C: Seminars...

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Genetics

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Genetics is the study of genes, genetic variation, and heredity in organisms. It is an important branch in biology because heredity is vital to organisms'...

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Human genetics

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the genetics of human life. This article describes only basic features of human genetics; for the genetics of disorders please see: medical genetics. Inheritance...

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Journal of Medical Genetics

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The Journal of Medical Genetics is a monthly peer-reviewed medical journal covering all aspects of medical genetics, including reviews of and opinion on...

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Medical specialty

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health rather than individual health). Medical genetics – the application of genetics to medicine. Medical genetics is a broad and varied field. It encompasses...

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Brachydactyly type D

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anomalies of the hands and feet: A new genetic trait". American Journal of Medical Genetics. 10 (3): 245–55. doi:10.1002/ajmg.1320100308. ISSN 1096-8628. PMID 6272576...

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XXXXY syndrome

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anomalies in a large cohort of boys with 49, XXXXY". American Journal of Medical Genetics. 163 (1): 44–49. doi:10.1002/ajmg.c.31354. PMID 23359596. S2CID 40989726...

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Geneticist

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PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a...

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Arachnodactyly

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contractures, and severe cardiac valve insufficiency". Journal of Medical Genetics. 28 (4): 267–273. doi:10.1136/jmg.28.4.267. ISSN 0022-2593. PMC 1016831...

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Pentasomy X

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case with pentasomy X and novel clinical findings". Balkan Journal of Medical Genetics. 18 (1): 85–92. doi:10.1515/bjmg-2015-0010. PMC 4768830. PMID 26929910...

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Hypermobility spectrum disorder

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hypermobility and related conditions". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 175 (1): 148–157. doi:10.1002/ajmg.c.31539. hdl:1854/LU-8510229...

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Trisomy X

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chromosome abnormalities". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (2): 202–215. doi:10.1002/ajmg.c.31805. PMID 32506765...

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Marfan syndrome

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"The revised Ghent nosology for the Marfan syndrome". Journal of Medical Genetics. 47 (7): 476–485. doi:10.1136/jmg.2009.072785. hdl:1854/LU-1013955...

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XX male syndrome

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Rojas, F G (December 1970). "A case of XX male syndrome". Journal of Medical Genetics. 7 (4): 394–398. doi:10.1136/jmg.7.4.394. ISSN 0022-2593. PMC 1468937...

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Osteogenesis imperfecta

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radiological, and molecular findings". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 160C (3): 175–189. doi:10.1002/ajmg.c.31334. PMID 22791419...

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Kabuki syndrome

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make-up syndrome: a review". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 117C (1): 57–65. doi:10.1002/ajmg.c.10020. PMID 12561059...

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Genetics in Medicine

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Genetics in Medicine is a monthly peer-reviewed medical journal covering medical genetics. It is the official journal of the American College of Medical...

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Treacher Collins syndrome

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using combined linkage analysis and ultrasound imaging". Journal of Medical Genetics. 33 (7): 603–606. doi:10.1136/jmg.33.7.603. PMC 1050672. PMID 8818950...

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Jacobsen syndrome

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been reported of Jacobsen syndrome in medical literature. Reference, Genetics Home. "Jacobsensyndrome". Genetics Home Reference. "Jacobsen Syndrome". prezi...

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Cat genetics

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established traits (phenotypes) of the offspring of particular crosses. In medical genetics, cat models are occasionally used to discover the function of homologous...

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Finnish heritage disease

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Peltonen-Palotie Nine diseases Population genetics BCG disease outbreak in Finland in the 2000s Medical genetics of Ashkenazi Jews Finnish Association on...

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Noonan syndrome

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management, and treatment". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184 (1): 73–80. doi:10.1002/ajmg.c.31765. ISSN 1552-4868...

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Fraser syndrome

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agenesis in two consanguineous Turkish families". American Journal of Medical Genetics. 36 (4): 477–479. doi:10.1002/ajmg.1320360421. PMID 2389805. van Haelst...

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Syndrome

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causes. The more specific definition employed in medical genetics describes a subset of all medical syndromes.[citation needed] Psychiatric syndromes...

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