46,XY/48,XXY, +8 in a male with clinical and dermatoglyphic features of mosaic trisomy 8 syndrome.
A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY,+8 chromosome complement with the characteristic clinical and dermatoglyphic features of mosaic trisomy 8 syndrome.
D000293:Adolescent; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D006801:Humans; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013131:Spine / Q000002:abnormalities; D014314:Trisomy