Personal genomics
Journal of Genetic Counseling. 21 (3): 368-391. doi:10.1007/s10897-011-9473-7. PMID 22223063. S2CID 10845045. Copeland, CS ( ... Genetic non-discrimination laws have been enacted in some US states and at the federal level, by the Genetic Information ... Health based on racial identity Genomic counseling Personal medicine DNA encryption - Hiding or perplexing genetic information ... This use of genetic information to select appropriate drugs is known as pharmacogenomics. This technology may allow treatments ...
Manuel Corpas (scientist)
Corpas M (June 2012). "A Family Experience of Personal Genomics". Journal of Genetic Counseling. 21 (3): 386-391. doi:10.1007/ ... in which he explores the wider issues beyond the science of genetic sequencing. Corpas is a fellow of the Software ...
Monilethrix
Genetic counseling will be of benefit for affected individuals and their families. Other treatment is symptomatic and ... Genetic Counseling (Geneva, Switzerland). 20 (1): 1-8. PMID 19400537. Freedberg; et al. (2003). Fitzpatrick's Dermatology in ... Rakowska A, Slowinska M, Kowalska-Oledzka E, Rudnicka L (2008). "Trichoscopy in genetic hair shaft abnormalities". J Dermatol ... ISBN 978-0-07-138076-8. Genetic and Rare Diseases Information Center (2008-09-09). "Monilethrix". NIH Office of Rare Diseases ...
Cleft palate short stature vertebral anomalies syndrome
Genetic Counseling (Geneva, Switzerland). 4 (4): 299-303. ISSN 1015-8146. PMID 8110419. (CS1 Spanish-language sources (es), ... "Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center". ... "Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center". ... is a very rare multi-systemic genetic disorder which is characterized by congenital cleft palate, facial dysmorphisms, short ...
IVIC syndrome
Genetic Counseling (Geneva, Switzerland). 8 (3): 201-206. ISSN 1015-8146. PMID 9327262. Bissonnette, Bruno; Luginbuehl, Igor; ... through the original Venezuelan family with IVIC syndrome that the cause of the disorder is an autosomal dominant genetic ... "IVIC syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05 ... Investigaciónes Científicas syndrome or oculo-oto-radial syndrome is a very rare autosomal dominant limb malformation genetic ...
Failure to thrive
Journal of Genetic Counseling. 26 (3): 387-434. doi:10.1007/s10897-017-0077-8. ISSN 1573-3599. PMID 28357779. S2CID 33873609. " ... A decrease in length with a proportional drop in weight can be related to long-standing nutritional factors as well as genetic ... Children who have FTT caused by a genetic or medical problem may have differences in growth patterns compared to children with ... After treatment has ended, the child's caretakers should be counseled on how to continue feeding them and looking for signs of ...
Xp11.2 duplication
... implications for genetic counseling and clinical diagnosis". Journal of Genetic Counseling. 23 (3): 289-98. doi:10.1007/s10897- ... NCBI Map Viewer (Articles with short description, Short description matches Wikidata, Rare genetic syndromes, Genetic diseases ...
Myotonia congenita
Genetic counseling is available.[citation needed] In northern Scandinavia, the prevalence of myotonia congenita has been ... It is a genetic disorder. The hallmark of the disease is the failure of initiated contraction to terminate, often referred to ... from certain genetic mutations), severe masseter spasm, and cramping. The condition is sometimes referred to as fainting goat ... clinical-genetic studies of the nondystrophic myotonias. Thieme. ISBN 978-3-13-224801-4.[page needed] Wakeman, Bradley; Babu, ...
Milroy's disease
Genetic counseling can be done. May have similar health conditions, delays, disorders, and physical traits associated with ... other lymphatic genetic diseases and chromosome #5 abnormalities.[citation needed] Milroy's disease does not normally affect ...
Polysomy
Chromosome Abnormalities and Genetic Counseling. 4th ed. Oxford: Oxford UP, 2012. Miller, Orlando J., and Eeva Therman. Human ... The result is a genetic condition in which a person has 47 chromosomes instead of the usual 46. During egg or sperm development ... 2000). An Introduction to Genetic Analysis: Aneuploidy (7th ed.). New York: W.H. Freeman & Co. Retrieved 24 March 2014.[page ... Nevo E, Beiles A, Korol AB, Robin YI, Pavlicek T, Hamilton W (April 2000). "Extraordinary multilocus genetic organization in ...
Birth defect
King CR (1986). "Genetic counseling for teratogen exposure". Obstetrics and Gynecology. 67 (6): 843-6. doi:10.1097/00006250- ... An additional study found that of 200 individuals referred for genetic counseling for a teratogenic exposure, 52% were exposed ... Non-genetic defects in sperm cells, such as deformed centrioles and other components in the tail and neck of the sperm which ... Genetic causes of birth defects include inheritance of abnormal genes from the mother or the father, as well as new mutations ...
Keck Graduate Institute
... a Master of Science in Human Genetics and Genetic Counseling program accredited by Accreditation Council for Genetic Counseling ... On December 28, 2016, KGI announced a plan to start a Master of Science in Human Genetics and Genetic Counseling program funded ... "Program Directory". Accreditation Council for Genetic Counseling. Retrieved 2019-10-10. "Drugs for rare disease out of reach ...
Tricho-dento-osseous syndrome
Genetic counseling is also recommended. Hair abnormalities are very prominent in majority of the cases of TDO. Kinky/curly hair ... This type of test in diagnosis of TDO is only used during research or if there is a concern of genetic issue to a particular ... It is also recommended for affected individuals to seek counseling to be better able to cope with any psychosocial problems due ... It is not completely understood why gene mutations occur, but it is known that genetic mutations that cause disease are ...
Isodicentric 15
Gardner, R. J. M. (2012). Chromosome abnormalities and genetic counseling. Grant R. Sutherland, Lisa G. Shaffer (4th ed.). ... mostly because this will affect the course of genetic counseling given to the family. If the abnormality is found prenatally ... Chromosome Abnormalities and Genetic Counseling, 3rd Ed, Oxford University Press, New York 2004. ISBN 0-19-514960-2 http://www. ... It is the presence of this extra genetic material that is thought to account for the symptoms seen in some people with idic(15 ...
Confined placental mosaicism
Chernos JE (1994). "Prenatal genetic counselling corner, unexpected chromosome results detected at prenatal diagnosis: II. ... Chromosome abnormalities and genetic counseling. Oxford: Oxford University Press. ISBN 978-0-19-510615-2. OCLC 33949819.[page ... Harper JC, Delhanty JD (2000). "Preimplantation genetic diagnosis". Curr Opin Obstet Gynecol. 12 (2): 67-72. doi:10.1097/ ... Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. Baltimore: Johns Hopkins University Press. pp. 214-296. ...
Familial hypercholesterolemia
Genetic counseling can help assist in genetic testing following a positive cholesterol screen for FH. Heterozygous familial ... "Genetic Counseling for Familial Hypercholesterolemia , CDC". www.cdc.gov. 2020-04-01. Retrieved 2021-02-12. Nemati, Mohammad ... New cases are generally offered genetic counseling. Homozygous FH often does not respond to medical therapy and may require ... The most common genetic defects in FH are LDLR loss of function mutations (prevalence 1 in 250, depending on the population), ...
Leber's hereditary optic neuropathy
Genetic counseling should be offered. Health and lifestyle choices should be reassessed, particularly in light of toxic and ... It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of ... NCBI Genetic Testing Registry (Webarchive template wayback links, Articles with short description, Short description is ...
XYYY syndrome
Teyssier M, Pousset G (January 1994). "46,XY/48,XYYY mosaicism case report and review of the literature". Genetic Counselling. ... Genetic syndromes, Syndromes with intellectual disability, Rare syndromes). ...
Human Genetics Society of Australasia
The conference provides a forum for members to showcase their own work in the fields of clinical genetics; genetic counselling ... The HGSA oversees professional training and certification in the fields of Diagnostic Genomics and Genetic Counseling. Two ... The HGSA oversees the regulation of the genetic counselling profession throughout Australia and New Zealand. The profession ... Genetic diagnostic techniques (in particular, in cytogenetics) were progressing rapidly. This coincided with the appreciation ...
Hoyeraal-Hreidarsson syndrome
Genetic counselling. Dyskeratosis congenita "Orphanet: Hoyeraal Hreidarsson syndrome". www.orpha.net. Retrieved 15 June 2019. ... "Hoyeraal Hreidarsson syndrome". Genetic and Rare Diseases Information Center. National Institutes of Health. 1 August 2019. ... Rare genetic syndromes, Syndromes affecting immunity, Syndromes affecting the cerebellum, Syndromes with microcephaly, ... thin corpus callosum and cerebral calcifications Molecular genetic testing - for confirmation Current treatment is supportive:[ ...
Trisomy 16
A case study presenting cognitive functioning and adaptive behavior". Genetic Counselling. 14 (3): 331-6. ISSN 1015-8146. OCLC ... Simensen, RJ; Colby, RS; Corning, KJ (2003). "A prenatal counseling conundrum: mosaic trisomy 16. ...
XX male syndrome
Chen, Harold (2012). "XX Male". Atlas of Genetic Diagnosis and Counseling. pp. 2191-2196. doi:10.1007/978-1-4614-1037-9_250. ... XX males that are SRY-positive have two X chromosomes, with one of them containing genetic material (the SRY gene) from the Y ... being atypically included in the crossing over of genetic information that takes place between the pseudoautosomal regions of ... The condition results from an abnormal exchange of genetic material between chromosomes (translocation). This exchange occurs ...
Kallmann syndrome
Au MG, Crowley WF, Buck CL (October 2011). "Genetic counseling for isolated GnRH deficiency". Molecular and Cellular ... Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism ... Between 35 and 45% of cases of KS/CHH have an unknown genetic cause. The ANOS1 gene defect (previously known as KAL-1) was the ... Increased incidence of color-blindness The exact genetic nature of each particular case of KS/HH will determine which, if any, ...
Genetic disorder
Milunsky, Aubrey; Milunsky, Jeff M. (2021). "Genetic Counseling: Preconception, Prenatal, and Perinatal". Genetic Disorders and ... Not all genetic disorders directly result in death; however, there are no known cures for genetic disorders. Many genetic ... Most genetic disorders are rare in themselves. There are well over 6,000 known genetic disorders, and new genetic disorders are ... Most genetic disorders are rare in themselves. Genetic disorders are present before birth, and some genetic disorders produce ...
Genetic history of the Arab world
To use Genetic counseling especially before and after marriage, avoiding Consanguinity, marrying into a different gene pool ... DNA history of Egypt Genetic history of the Middle East Genetic history of North Africa Genetic studies on Jews Genetic studies ... guidebook about Rare genetic diseases Another book Arabic genetic disorders layman guide Saudi Journal article about genetic ... Most genetic diseases go unnoticed by person or physician or dormant and show up later in life, and so genetic testing might ...
Kniest dysplasia
Chen, Harold (2012). Chen, Harold (ed.). Atlas of Genetic Diagnosis and Counseling. New York: Springer US. pp. 1259-1263. doi: ... and diaphysis Short tubular bones Narrowed joint spaces Genetic Testing - A genetic sample may be taken in order to closely ... Jenkin, Henry J. (2010). "Hand and foot abnormalities associated with genetic diseases". Hand (New York, N.Y.). Springer Link. ...
Member check
Gordon, C., Prince, M.B., Benkendorf, J.L. (2002). Hamilton HE Journal of Genetic Counseling. 4, 245-63. Grinnel R., Unrau Y ...
Tex36
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling. Journal of Genetic Counseling ... Yan, J., Hitomi, T., Takenaka, K., Kato, M., Kobayashi, H., Okuda, H., ... & Koizumi, A. (2015). Genetic study of intracranial ...
Albinism in humans
Chen, Harold (2006). Atlas of genetic diagnosis and counseling. Totowa, New Jersey: Humana Press. pp. 37-40. ISBN 978-1-58829- ... Genetic testing can confirm albinism and what variety it is, but offers no medical benefits, except in the case of non-OCA ... Genetic tests are currently available for parents who want to find out if they are carriers of ty-neg albinism. Diagnosis of ... There are other genetic mutations which are proven to be associated with albinism. All alterations, however, lead to changes in ...
Tetrasomy 9p
"Tetrasomy 9p Syndrome". Atlas of Genetic Diagnosis and Counseling. Humana Press. 2006-01-01. pp. 947-949. doi:10.1007/978-1- ... which allows genetic counsellors to physically view the chromosomal composition of the cells. Analysis of more than one tissue ...