Mosaic 47,XY, + 8/48,XXYY in a mentally non‐retarded man with phenotypical and neurological abnormalities
- 28 June 1989
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 35 (6) , 446-449
- https://doi.org/10.1111/j.1399-0004.1989.tb02970.x
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.Keywords
This publication has 3 references indexed in Scilit:
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- 46,XY/48,XXY,+8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndromeClinical Genetics, 1981
- Trisomy 8Human Genetics, 1980