Literature DB >> 142158

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

H F Mark, T Mendoza, D Abuelo, L J Beauregard, J B May, P H LaMarche.   

Abstract

The birth of a child is described with Down syndrome followed by the conception of a fetus bearing the t(21q21q) chromosome in 100% of their cells in a women mosiac for the translocation in less than 10% of 2 of her examined tissues and in none of the cells in her peripheral blood. Various hypotheses for explaining the above findings are discussed. The importance of examining as many parental tissues as possible for the detection of low percentage mosiacism is stressed.

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Year:  1977        PMID： 142158      PMCID： PMC1013563          DOI： 10.1136/jmg.14.3.221

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


  7 in total

1.  A family with three sibs carrying trisomy 21.

Authors:  F Nuzzo; M Stefanini; G Simoni; L Larizza; A Mottura; E Reali; P Franceschini
Journal:  Ann Genet       Date:  1975-06

2.  TWO UNUSUAL CASES OF FAMILIAL MONGOLISM.

Authors:  L DALLAIRE; F C FRASER
Journal:  Can J Genet Cytol       Date:  1964-12

3.  Familial mongolism by a G--G mosaic carrier.

Authors:  S H Waxman; D T Arakaki
Journal:  J Pediatr       Date:  1966-08       Impact factor: 4.406

4.  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

5.  Down's syndrome transmitted through maternal mosaicism.

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

6.  De-novo G-G-translocation Down's syndrome in two siblings.

Authors:  R S Wilroy; R L Summitt; R L Atnip
Journal:  Lancet       Date:  1969-08-23       Impact factor: 79.321

7.  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
  7 in total
  6 in total

1.  Reproduction in a woman with mosaicism.

Authors:  R S Wilroy; R L Summitt; P Martens
Journal:  J Med Genet       Date:  1978-10       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.  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

4.  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

5.  Robertsonian translocation T (21; 21) in a female born to normal parents: a case report.

Authors:  Giriraj Kusre; Mukul Sarma; Tulika Nirmolia; Priyanka Shankarishan
Journal:  J Clin Diagn Res       Date:  2015-01-01

6.  Are de novo rea(21;21) chromosomes really de novo?

Authors:  Bérénice Hervé; Thibaud Quibel; Stéphane Taieb; Mireille Ruiz; Denise Molina-Gomes; François Vialard
Journal:  Clin Case Rep       Date:  2015-08-26
  6 in total

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