Literature DB >> 4279290

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

L Atkins, C S Bartsocas.   

Abstract

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Year:  1974        PMID： 4279290      PMCID： PMC1013151          DOI： 10.1136/jmg.11.3.306

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


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  2 in total

1.  Chromosomal mosaicism and mongolism.

Authors:  H ZELLWEGER; G ABBO
Journal:  Lancet       Date:  1963-04-13       Impact factor: 79.321

2.  The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1972       Impact factor: 4.316
  2 in total
  9 in total

1.  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

2.  A somatic origin of homologous Robertsonian translocations and isochromosomes.

Authors:  W P Robinson; F Bernasconi; S Basaran; M Yüksel-Apak; G Neri; F Serville; P Balicek; R Haluza; L M Farah; G Lüleci
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

3.  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

4.  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

5.  Unstable familial translocations: A t(11;22)mat inherited as a t(11;15).

Authors:  D J Tomkins
Journal:  Am J Hum Genet       Date:  1981-09       Impact factor: 11.025

6.  Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.

Authors:  M B Jenkins; R Kriel; L Boyd
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

7.  Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations.

Authors:  S L Page; L G Shaffer
Journal:  Chromosome Res       Date:  1998-02       Impact factor: 5.239

8.  Trisomy 22 in a newborn with multiple malformations.

Authors:  I Voiculescu; E Back; A M Duncan; H Schwaibold; W Schempp
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

Review 9.  An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.

Authors:  M J Clarke; D A Thomson; M J Griffiths; J G Bissenden; A Aukett; J L Watt
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318
  9 in total

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