Literature DB >> 12084977

Trisomy 8 mosaicism syndrome.

Marzena Wiśniewska1, Małgorzata Mazurek.   

Abstract

Authors present the case of a 15-year-old boy assessed for Marfan syndrome for many years. The child was treated because of skeletal defects, mild mental deficiency and dysmorphic features of face. Chromosomal analysis showed a trisomy 8 mosaicism.

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Mesh：

Year:  2002        PMID： 12084977

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  10 in total

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4.  Heterotopic ossification after patellar tendon repair in a man with trisomy 8 mosaicism: a case report and literature review.

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6.  Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus.

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7.  Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.

Authors:  Junjie Hu; Kai Yan; Pengzhen Jin; Yanmei Yang; Yixi Sun; Minyue Dong
Journal:  Mol Cytogenet       Date:  2022-09-01       Impact factor: 1.904

8.  Mosaic trisomy 8 detected by fibroblasts cultured of skin.

Authors:  Gustavo Giraldo; Ana M Gómez; Lina Mora; Fernando Suarez-Obando; Olga Moreno
Journal:  Colomb Med (Cali)       Date:  2016-06-30

9.  Mild phenotypes associated with an unbalanced X-autosome translocation, 46,X,der(X)t(X;8)(q28;q13).

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10.  Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review.

Authors:  Shaohua Sun; Fang Zhan; Jiusheng Jiang; Xuerui Zhang; Lei Yan; Weiyi Cai; Hailiang Liu; Donghua Cao
Journal:  BMC Med Genomics       Date:  2019-12-21       Impact factor: 3.063
  10 in total

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