Y aneuploidy: a further case of a male patient with a 48,XYYY karyotype and literature review.
An adult male with three Y chromosomes is reported. The patient showed some clinical features similar to those of Klinefelter's syndrome. This case represents the 6th instance described in the literature of a 48,XYYY karyotype without recognizable mosaicism. The authors compare the clinical symptoms with those of the five previously reported cases.
Mazauric-Stüker
M
M
Abt für Klinische Humangenetik, Ruhr-Universität Bochum, Germany.
Kordt
G
G
Brodersen
D
D
D000328:Adult; D000782:Aneuploidy; D004830:Epilepsy, Tonic-Clonic / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D019964:Mood Disorders / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000453:epidemiology / Q000235:genetics*; D014998:Y Chromosome