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

Autor:	J. W. E. Oorthuys, M. de Visser, J. M. N. Hoovers
Rok vydání:	2008
Předmět:	Adult Male Neurologic Examination Genetics X Chromosome Mosaic trisomy 8 syndrome Mosaicism Trisomy Karyotype Biology Trisomy 8 medicine.disease Y chromosome Phenotype Y Chromosome medicine Humans Genetics (clinical) X chromosome
Zdroj:	Clinical Genetics. 35:446-449
ISSN:	1399-0004 0009-9163
DOI:	10.1111/j.1399-0004.1989.tb02970.x
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa07ee364cdf7bdf1aa366f723a1c4a https://doi.org/10.1111/j.1399-0004.1989.tb02970.x Zobrazit plný text záznamu Plný text