Literature DB >> 589516

Trisomy 12 mosaicism in an infertile man.

C L Richer, G Bleau, A Chapdelaine.   

Abstract

Cytological studies of peripheral blood lymphocytes from an infertile man revealed the presence of a mosaic trisomy 12. To our knowledge this has not been previously reported in patients. The clinical manifestations in this case enhance the interest of the cytological findings.

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Year:  1977        PMID： 589516     DOI： 10.1139/g77-061

Source DB:  PubMed          Journal:  Can J Genet Cytol        ISSN： 0008-4093


  6 in total

Review 1.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

Review 2.  Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.

Authors:  C J English; J A Goodship; A Jackson; M Lowry; J Wolstenholme
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

Review 3.  Genetical and ultrastructural aspects of the immotile-cilia syndrome.

Authors:  B A Afzelius
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025

4.  Partial trisomy 12q: report of a case and review.

Authors:  S H Roberts; T Mattina; K M Laurence; G Sorge; L Pavone
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

Review 5.  Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.

Authors:  J W Dixon; T Costa; I E Teshima
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

Review 6.  Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature.

Authors:  Daniela Hainz; Marcus Krüger; Daniela Reber; Karl Mehnert; Theresa Brunet; Gabriele Lederer; Sabine Langer-Freitag; Julia Hoefele
Journal:  World J Pediatr       Date:  2021-07-14       Impact factor: 2.764
  6 in total

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