Literature DB >> 144798

Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism.

A Osuna, A Moreno.   

Abstract

This paper describes a family with 3 affected sibs with regular trisomy 21 Down syndrome. The condition seems to be transmitted from a phenotypically normal mother in whom G-trisomy mosaicism was identified. Giemsa banding depicted trisomy 21 mosaicism in cells from the mother. Chromosomes from the children showed a trisomy 21 in all the cells analysed.

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Year:  1977        PMID： 144798      PMCID： PMC1013588          DOI： 10.1136/jmg.14.4.286

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


  3 in total

1.  A rapid banding technique for human chromosomes.

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

2.  Down's syndrome transmitted through maternal mosaicism.

Authors:  D Aarskog
Journal:  Acta Paediatr Scand       Date:  1969-11

3.  Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome.

Authors:  S Kaffe; L Y Hsu; K Hirschhorn
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318
  3 in total
  2 in total

1.  Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue.

Authors:  Natalia V Kovaleva
Journal:  Mol Cytogenet       Date:  2010-03-18       Impact factor: 2.009

2.  Parental trisomy 21 mosaicism.

Authors:  D J Harris; M L Begleiter; J Chamberlin; L Hankins; R E Magenis
Journal:  Am J Hum Genet       Date:  1982-01       Impact factor: 11.025
  2 in total

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