Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities.
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.
Hoovers
J M
JM
Institute of Human Genetics, Faculty of Medicine, Academic Medical Centre, Amsterdam, The Netherlands.
Oorthuys
J W
JW
de Visser
M
M
D000328:Adult; D006801:Humans; D008297:Male; D009030:Mosaicism; D009460:Neurologic Examination; D014314:Trisomy; D014960:X Chromosome; D014998:Y Chromosome