mosaicism

出典: meddic

モザイク現象

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「the condition in which an organism has two or more cell populations that differ in genetic makeup」

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/06/02 00:02:58」(JST)

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英文文献

  • Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.
  • Anderlid BM, Lundin J, Malmgren H, Lehtihet M, Nordgren A.Author information Department of Molecular Medicine and Surgery, Clinal Genetic Unit, Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.AbstractGenetic analyses were performed in a male patient with suspected Prader-Willi syndrome who presented with hypogonadism, excessive eating, central obesity, small hands and feet and cognition within the low normal range. However, he had no neonatal hypotonia or feeding problems during infancy. Chromosome analysis showed a normal male karyotype. Further analysis with array-CGH identified a mosaic 847 kb deletion in 15q11-q13, including SNURF-SNRPN, the snoRNA gene clusters SNORD116 (HBII-85), SNORD115, (HBII-52), SNORD109 A and B (HBII-438A and B), SNORD64 (HBII-13), and NPAP1 (C15ORF2). MLPA confirmed the deletion and the results were compatible with a paternal origin. Metaphase-FISH verified the mosaicism with the deletion present in 58% of leukocytes analyzed. Three smaller deletions in this region have previously been reported in patients with Prader-Willi syndrome phenotype. All three deletions included SNORD116, but only two encompassed parts of SNURF-SNRPN, implicating SNORD116 as the major contributor to the Prader-Willi phenotype. Our case adds further information about genotype-phenotype correlation and supports the hypothesis that SNORD116 plays a major role in the pathogenesis of Prader-Willi syndrome. Furthermore, it examplifies diagnostic difficulties in atypical cases and illustrates the need for additional testing methods when Prader-Willi syndrome is suspected. © 2013 Wiley Periodicals, Inc.
  • American journal of medical genetics. Part A.Am J Med Genet A.2014 Feb;164(2):425-31. doi: 10.1002/ajmg.a.36307. Epub 2013 Dec 5.
  • Genetic analyses were performed in a male patient with suspected Prader-Willi syndrome who presented with hypogonadism, excessive eating, central obesity, small hands and feet and cognition within the low normal range. However, he had no neonatal hypotonia or feeding problems during infancy. Chromos
  • PMID 24311433
  • Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome.
  • Sánchez J, Fernández R, Madruga M, Bernabeu-Wittel J, Antiñolo G, Borrego S.Author information Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, Seville, Spain.AbstractAngelman syndrome (AS, OMIM105830) is a neurogenetic disorder caused by different genetic mechanisms. Determining the genetic mechanism is essential to establish the recurrence risk and the accuracy of genetic/reproductive counseling. The majority of AS patients present with a deletion of the 15q11.2-q13 region on the maternally derived chromosome. The other genetic mechanisms are: paternal disomy of chromosome 15, imprinting center defects, and mutations in the ubiquitin-protein ligase E3A gene (UBE3A). Different recurrence risks are associated with each specific genetic mechanism involved. We report on the study of dizygotic twins with classic phenotypic AS due to deletion of the same maternally derived chromosome 15. The mother presented with hypopigmented macular lesions on the inner side of both arms. Fibroblast culture studies of the maternal hypopigmented skin areas from both arms showed mosaicism for a normal cell line and for a second cell line with a 15q11.2-q13 deletion. This family represents the first demonstrated case of maternal somatic and germ line mosaicism for 15q11.2-q13 deletion as the cause of AS. © 2013 Wiley Periodicals, Inc.
  • American journal of medical genetics. Part A.Am J Med Genet A.2014 Feb;164(2):370-6. doi: 10.1002/ajmg.a.36281. Epub 2013 Dec 5.
  • Angelman syndrome (AS, OMIM105830) is a neurogenetic disorder caused by different genetic mechanisms. Determining the genetic mechanism is essential to establish the recurrence risk and the accuracy of genetic/reproductive counseling. The majority of AS patients present with a deletion of the 15q11.
  • PMID 24311297
  • Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain.
  • Fernández RM, Núñez-Ramos R, Enguix-Riego MV, Román-Rodríguez FJ, Galán-Gómez E, Blesa-Sánchez E, Antiñolo G, Núñez-Núñez R, Borrego S.Author information Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.AbstractShah-Waardenburg syndrome or Waardenburg syndrome type 4 (WS4) is a neurocristopathy characterized by the association of deafness, depigmentation and Hirschsprung disease. Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. SOX10 mutations, found in 45-55% of WS4 patients, are inherited in autosomal dominant way. In addition, mutations in SOX10 are also responsible for an extended syndrome involving peripheral and central neurological phenotypes, referred to as PCWH (peripheral demyelinating neuropathy, central dysmyelinating leucodystrophy, Waardenburg syndrome, Hirschsprung disease). Such mutations are mostly private, and a high intra- and inter-familial variability exists. In this report, we present a patient with WS4 and a second with PCWH due to SOX10 mutations supporting again the genetic and phenotypic heterogeneity of these syndromes. Interestingly, the WS4 family carries an insertion of 19 nucleotides in exon 5 of SOX10, which results in distinct phenotypes along three different generations: hypopigmentation in the maternal grandmother, hearing loss in the mother, and WS4 in the proband. Since mosaicism cannot explain the three different related-WS features observed in this family, we propose as the most plausible explanation the existence of additional molecular events, acting in an additive or multiplicative fashion, in genes or regulatory regions unidentified so far. On the other hand, the PCWH case was due to a de novo deletion in exon 5 of the gene. Efforts should be devoted to unravel the mechanisms underlying the intrafamilial phenotypic variability observed in the families affected, and to identify new genes responsible for the still unsolved WS4 cases. © 2013 Wiley Periodicals, Inc.
  • American journal of medical genetics. Part A.Am J Med Genet A.2014 Feb;164(2):542-7. doi: 10.1002/ajmg.a.36302. Epub 2013 Dec 5.
  • Shah-Waardenburg syndrome or Waardenburg syndrome type 4 (WS4) is a neurocristopathy characterized by the association of deafness, depigmentation and Hirschsprung disease. Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. SOX10 mutations, found in 45-55% of WS4
  • PMID 24311220

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関連リンク

Mosaicism definition, a condition in which an organism or part is composed of two or more genetically distinct tissues owing to experimental manipulation or to faulty distribution of genetic material during mitosis. See more. Blog ...
mosaicism /mo·sa·i·cism/ (mo-za´ĭ-sizm) in genetics, the presence in an individual of two or more cell lines that are karyotypically or genotypically distinct and are derived from a single zygote. mo·sa·i·cism (mō-zā′ĭ-sĭz′əm) n. A ...

関連画像

Origin of trisomy mosaicism may be somatic Somatic Mosaicism andPosted by Kevin Mitchell situation is called chromosomal mosaicismTrisomy Disorders manifestations of somatic mosaicism


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拡張検索gonadal mosaicism」「trisomy 9 mosaicism」「trisomy 8 mosaicism

gonadal mosaicism」

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gonadal
  • an exception to this is when the new mutation occurs early in germline development, leading to gonadal mosaicism. (HIM.395)

trisomy 9 mosaicism」

  [★] 9トリソミーモザイク


trisomy 8 mosaicism」

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