Literature DB >> 2523486

An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.

M J Clarke1, D A Thomson, M J Griffiths, J G Bissenden, A Aukett, J L Watt.   

Abstract

A baby girl with some of the stigmata of Down's syndrome was found to be a mosaic with three different cell lines: 45,XX,-13,-21,+t(13q21q)/(46,XX/46,XX, -21,+t(21q21q). The chromosome rearrangements detected in this patient appear to have arisen de novo. In the normal cell line the terminal end of the p arm of one chromosome 21 is thought to have been damaged. It seems probable that this is related to the other chromosomal anomalies found.

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Mesh：

Year:  1989        PMID： 2523486      PMCID： PMC1015584          DOI： 10.1136/jmg.26.3.198

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  FAMILIAL MOSAICISM ATTRIBUTABLE TO A NEW GENE.

Authors:  H ZELLWEGER; G ABBO
Journal:  Lancet       Date:  1965-02-27       Impact factor: 79.321

2.  Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q).

Authors:  A M Vianna-Morgante; H G Nunesmaia
Journal:  J Med Genet       Date:  1978-08       Impact factor: 6.318

3.  The behavior of isochromosomes and telocentrics in wheat.

Authors:  E R SEARS
Journal:  Chromosoma       Date:  1952       Impact factor: 4.316

4.  46,XX,t(15;21)/47,XX,15p-,+21 mosaicism in a child with Down's syndrome.

Authors:  J Lucas; F Le Mee; K Pluquailec; B Le Marec; H Journel; F Picard
Journal:  Ann Genet       Date:  1986

5.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

6.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

7.  Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).

Authors:  L Atkins; C S Bartsocas
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

8.  Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

Authors:  A T Tharapel; R Redheendran; C B Mankinen; M K Kukolich
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

9.  Two Robertsonian translocations in a boy with mental retardation.

Authors:  E Lieber; P Shah
Journal:  J Med Genet       Date:  1982-06       Impact factor: 6.318

10.  Visualization of nucleolar organizer regions im mammalian chromosomes using silver staining.

Authors:  C Goodpasture; S E Bloom
Journal:  Chromosoma       Date:  1975-11-20       Impact factor: 4.316
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  1 in total

1.  Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China.

Authors:  Wei-Wei Zhao; Menghua Wu; Fan Chen; Shuai Jiang; Hui Su; Jianfen Liang; Chunhua Deng; Chaohui Hu; Shihui Yu
Journal:  PLoS One       Date:  2015-05-01       Impact factor: 3.240
  1 in total

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