Literature DB >> 2736792

Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities.

J M Hoovers1, J W Oorthuys, M de Visser.   

Abstract

This report describes a non-retarded human male, mosaic for a 47,XY,+8 and a 48,XXYY cell line. The 47,XY,+8 cell line is present in approximately 70% of both lymphocytes and skin fibroblasts; 30% of the cells in both tissues have a 48,XXYY karyotype. Clinical abnormalities correspond mostly with the mosaic trisomy 8 syndrome.

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Year:  1989        PMID: 2736792     DOI: 10.1111/j.1399-0004.1989.tb02970.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  1 in total

1.  Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8.

Authors:  D DeBrasi; M Genardi; A D'Agostino; F Calvieri; C Tozzi; S Varrone; G Neri
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

  1 in total

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