Literature DB >> 15666311

Supernumerary ring chromosome 20 in a mother and her child.

M R Pinto1, M L Fonseca e Silva, J Aguiar, I Quelhas, M R Lima.   

Abstract

The authors report a familial case of mosaicism for an extra ring 20, identified by fluorescence in situ hybridization (FISH), in a mother and her child. In spite of the fact that both patients had clinical abnormalities, the more severe phenotype present in the child was probably due to the higher percentage of abnormal cells. To our knowledge, this is the first report of a familial extra ring 20 mosaicism. (c) 2005 Wiley-Liss, Inc.

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Year:  2005        PMID: 15666311     DOI: 10.1002/ajmg.a.30532

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  2 in total

1.  Stability of monocentric and dicentric ring minichromosomes in Arabidopsis.

Authors:  Etsuko Yokota; Fukashi Shibata; Kiyotaka Nagaki; Minoru Murata
Journal:  Chromosome Res       Date:  2011-10-29       Impact factor: 5.239

2.  Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male.

Authors:  Sofia Kitsiou-Tzeli; Emmanouil Manolakos; Magdalini Lagou; Maria Kontodiou; Nadezda Kosyakova; Elisabeth Ewers; Anja Weise; Antonios Garas; Sandro Orru; Thomas Liehr; Aikaterini Metaxotou
Journal:  Mol Cytogenet       Date:  2009-01-07       Impact factor: 2.009

  2 in total

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