Literature DB >> 127545

A family with three sibs carrying trisomy 21.

F Nuzzo, M Stefanini, G Simoni, L Larizza, A Mottura, E Reali, P Franceschini.   

Abstract

A family with three sibs, including a pair of dizygotic twins, all affected by Down's syndrome with regular trisomy 21, is described. The chromosome counts carried out on prolonged fibroblasts cultures of the mother, revealed the presence of the trisomy 21 in 6 out of 688 scored mitoses. The cytological findings give support to the hypothesis of a chromosome mosaicism in one of the normal parents, as a cause of the recurrence of the trisomy 21.

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Year:  1975        PMID: 127545

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  4 in total

1.  Trisomy 21 mosaicism in two successive generations in a family.

Authors:  J C Parke; F S Grass; R Pixley; J Deal
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

2.  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

3.  Reproduction in a woman with low percentage t(21q21q) mosaicism.

Authors:  H F Mark; T Mendoza; D Abuelo; L J Beauregard; J B May; P H LaMarche
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

4.  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

  4 in total

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