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Mosaic 47,XY, + 8/48,XXYY in a mentally non‐retarded man with phenotypical and neurological abnormalities
Author(s) -
Hoovers J. M. N.,
Oorthuys J. W. E.,
Visser M.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02970.x
Subject(s) - karyotype , phenotype , mentally retarded , biology , trisomy , mosaic , genetics , x chromosome , long arm , aneuploidy , chromosome , endocrinology , psychology , gene , history , developmental psychology , archaeology
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.