Literature DB >> 6859097

First report of mosaic trisomy 12 in a liveborn individual.

S R Patil, E P Bosch, J W Hanson.   

Abstract

Trisomy 12 mosaicism was found in a 36-year-old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a "complete" trisomy 12 in a liveborn individual.

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Year:  1983        PMID： 6859097     DOI： 10.1002/ajmg.1320140308

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 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.  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 4.  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
  4 in total

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