title: Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.
abstract: We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.
authors.affiliation: Department of Dermatology, University of Patras, Patras, Greece. almonast@med.upatras.gr
authors.forename: Alexandra
authors.initials: A
authors.lastname: Monastirli
authors.forename: Georgia
authors.initials: G
authors.lastname: Stephanou
authors.forename: Sophia
authors.initials: S
authors.lastname: Georgiou
authors.forename: Constantinos
authors.initials: C
authors.lastname: Andrianopoulos
authors.forename: Efi
authors.initials: E
authors.lastname: Pasmatzi
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Chroni
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Katrivanou
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Dimopoulos
authors.forename: Nikos A
authors.initials: NA
authors.lastname: Demopoulos
authors.forename: Dionysios
authors.initials: D
authors.lastname: Tsambaos
mesh_terms: D000368:Aged; D001827:Body Height / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics; D005096:Exostoses / Q000235:genetics; D006177:Gynecomastia / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D009030:Mosaicism; D009630:Nondisjunction, Genetic; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders; D014997:XYY Karyotype