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Genetic Mosaic


Presentation

  • Follow-up clinical management recommendations are presented that can be used when a mosaic variant is unexpectedly found in the peripheral blood.[invitae.com]
  • Additionally, what I have presented here is a very simplified explanation of a very complex process.[mykoweb.com]
  • When a person has extra or missing chromosomes in some cells and other cells with a different number of chromosomes, the phenomenon of numerical mosaicism is present.[evolvegene.com]
  • Each thus validated candidate gene will then be sequenced in depth in additional patients presenting a similar or overlapping clinical picture. This project will benefit from the experience of Pr.[gad-bfc.org]
  • Treatment is based on the signs and symptoms present in each person. [1] [2] [3] Last updated: 1/18/2015[rarediseases.info.nih.gov]
Familial Adenomatous Polyposis
  • "Gonadal mosaicism and familial adenomatous polyposis". Familial Cancer. 7 (2): 173–7. doi : 10.1007/s10689-007-9169-1. PMID 18026870. Nissani, M (1975). "A new behavioral bioassay for an analysis of sexual attraction and pheromones in insects".[en.wikipedia.org]
Precocious Puberty
  • Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty. Am J Med Genet A. 2009;149A:993–6. 51. González-del Angel A, Estandia-Ortega B, Gavino-Vergara A, Sáez-de-Ocariz M, Velasco-Hernández Mde L, Salas-Labadía C.[ojrd.biomedcentral.com]
Heterochromia Iridis
  • When eye colours vary between the two eyes, or within one or both eyes, the condition is called heterochromia iridis ( 'different coloured iris'). It can have many different causes, both genetic and accidental.[wiki.kidzsearch.com]

Treatment

  • Treatment is based on the signs and symptoms present in each person. [1] [2] [3] Last updated: 1/18/2015[rarediseases.info.nih.gov]
  • But there’s always the option of developing and testing new drugs that might be more effective, or combining it with other treatments that enhance its effectiveness.[scienceblog.cancerresearchuk.org]
  • Rare Disease Institute - Genetics and Metabolism Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.[childrensnational.org]
  • The finding may also facilitate the development of new drugs and treatments for conditions connected to the variation.[futurity.org]

Prognosis

  • Scientists are very enthusiastic about the discovery of genetic mosaic in brain, but Mike McConnell is cautious about the prognosis of finding remedy to mental diseases based on his findings.[aboutislam.net]
  • In fact, most cases of mosaicism, even when detected in AF cultures, will have a good prognosis (see e.g., Hsu et al., 1997; Wallerstein et al., 2000).[what-when-how.com]
  • This example highlights that genetic mechanisms for a tumor phenotype may be varied, with implications for screening, diagnosis, prognosis, and therapeutic management.[genomemedicine.biomedcentral.com]
  • Prognosis The prognosis for an individual with MVA syndrome is based on the malformations present in the individual.[atlasgeneticsoncology.org]
  • Prognosis for the co-twin following single-twin death: a systematic review. BJOG, 113 (2006), pp. 992-998 [33] P.O. Pharoah, Y. Adi. Consequences of in-utero death in a twin pregnancy. Lancet, 355 (2000), pp. 1597-1602 [34] R. Spencer.[elsevier.es]

Etiology

  • There is also evidence for the involvement of maternal cells in the etiology of neonatal or juvenile autoimmune disorders (Stevens et al., 2003).[what-when-how.com]
  • Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome. J Craniofac Genet Dev Biol. 1983;3:313-16. Sanchez JM, et al. Report of a new case and clinical delineation of mosaic trisomy 9 syndrome.[rarediseases.org]
  • These parent-of-origin effects, together with the finding of paternal uniparental disomy of chromosome 11p15 in 20% of BWS cases, suggests that abnormal genomic imprinting might play an important role in the etiology of BWS.[elsevier.es]
  • The wide range of this result confirms the earlier mentioned and important point, that the etiology of pigmentary mosaicism is heterogeneous and complex and should not be considered distinct syndromes despite similarities in the clinical picture.[ojrd.biomedcentral.com]

Epidemiology

  • Solid Tumors Cancer-Prone Deep Insight Case Reports Journals Portal Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Written 2011-12 Sandra Hanks, Katie Snape, Nazneen Rahman Institute of Cancer Research, Division of Genetics, Epidemiology[atlasgeneticsoncology.org]
  • Disease Cycle and Epidemiology Disease Cycle and Epidemiology Because of its wide host range, numerous weeds can serve as reservoirs for CMV and contribute to virus spread to crops at the beginning of the season.[apsnet.org]
  • Multiple pregnancy: epidemiology, gestation & perinatal outcome, pp. 226-232 [2] G.A. Machin. Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet, 61 (1996), pp. 216-228 [3] Z. Kaminsky, A. Petronis, S.C.[elsevier.es]
Sex distribution
Age distribution

Prevention

  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • However the gene GAL80 is used to repress the action of GAL4, preventing the expression of GFP.[house.wikia.com]
  • The idea of changing genes to prevent hereditary diseases has been around for a while, but until recently, we didn’t have the tools to do it.[newscientist.com]
  • In addition, preventing them from using the embryo restricts their procreative liberty, preventing them from having a genetically related child.[thehastingscenter.org]
  • Some day we will hopefully be able to predict which cancers are linked to certain mutations and then even prevent cancer from forming.[livinglfs.org]

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