Literature DB >> 7695369

Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism.

L H Tseng1, S M Chuang, T Y Lee, T M Ko.   

Abstract

A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.

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Year:  1994        PMID： 7695369     DOI： 10.1007/bf02335088

Source DB:  PubMed          Journal:  Arch Gynecol Obstet        ISSN： 0932-0067            Impact factor:   2.344


  17 in total

1.  DNA polymorphism analysis in families with recurrence of free trisomy 21.

Authors:  C G Pangalos; C C Talbot; J G Lewis; P A Adelsberger; M B Petersen; J L Serre; M O Rethoré; M C de Blois; P Parent; A A Schinzel
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks.

Authors:  E S Sachs; M G Jahoda; F J Los; L Pijpers; J W Wladimiroff
Journal:  Am J Med Genet Suppl       Date:  1990

3.  Paternal trisomy 21 mosaicism and Down's syndrome.

Authors:  L Y Hsu; M Gertner; E Leiter; K Hirschhorn
Journal:  Am J Hum Genet       Date:  1971-11       Impact factor: 11.025

4.  Multiple recurrence of trisomy 21 Down syndrome.

Authors:  K G Nielsen; H Poulsen; M Mikkelsen; E Steuber
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

5.  Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age.

Authors:  S E Antonarakis; D Avramopoulos; J L Blouin; C C Talbot; A A Schinzel
Journal:  Nat Genet       Date:  1993-02       Impact factor: 38.330

6.  Cytogenetic studies of a family with trisomy 21 mosaicism in two successive generations as the cause of Down's syndrome.

Authors:  W Werner; F H Herrmann; B John
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

Review 7.  Trisomy in man.

Authors:  T J Hassold; P A Jacobs
Journal:  Annu Rev Genet       Date:  1984       Impact factor: 16.830

8.  The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms.

Authors:  S E Antonarakis; M B Petersen; M G McInnis; P A Adelsberger; A A Schinzel; F Binkert; C Pangalos; O Raoul; S A Slaugenhaupt; M Hafez
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

9.  Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group.

Authors:  S E Antonarakis
Journal:  N Engl J Med       Date:  1991-03-28       Impact factor: 91.245

10.  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
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  6 in total

1.  Germline mosaicism does not explain the maternal age effect on trisomy.

Authors:  Ross Rowsey; Anna Kashevarova; Brenda Murdoch; Carrie Dickenson; Tracey Woodruff; Edith Cheng; Patricia Hunt; Terry Hassold
Journal:  Am J Med Genet A       Date:  2013-08-15       Impact factor: 2.802

2.  Recurrent Trisomies: Chance or Inherited Predisposition?

Authors:  J E Ulm
Journal:  J Genet Couns       Date:  1999-04       Impact factor: 2.537

3.  The origin of abnormalities in recurrent aneuploidy/polyploidy.

Authors:  W P Robinson; D E McFadden; M D Stephenson
Journal:  Am J Hum Genet       Date:  2001-10-23       Impact factor: 11.025

4.  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

5.  On the origin of trisomy 21 Down syndrome.

Authors:  Maj A Hultén; Suketu D Patel; Maira Tankimanova; Magnus Westgren; Nikos Papadogiannakis; Anna Maria Jonsson; Erik Iwarsson
Journal:  Mol Cytogenet       Date:  2008-09-18       Impact factor: 2.009

6.  Why could a woman have three Trisomy 21 pregnancies? - a case report.

Authors:  Magda Magalhães; Cecília Marques; Fabiana Ramos; Ana Jardim; Sofia Franco; Filomena Coelho; Isabel Carreira; Paulo Moura
Journal:  Clin Case Rep       Date:  2017-06-15
  6 in total

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