title: Turner syndrome with pseudodicentric Y chromosome mosaicism.
abstract: The objective was to compare the impact of gonadal cell line upon the phenotype of a Turner syndrome patient with mosaic karyotypes. A 10-year-old female presented with typical Turner syndrome. Chromosomal analysis of lymphocytes revealed 45,X (16%)/46,X,pseudodicentric Y (p ter-->q12::q12-->p ter) (84%). Karyotype of the gonads revealed 45,X (85%)/46,X,pseudodicentric Y (p ter-->q12::q12-->p ter) (15%). Discrepancy of the individual cell lines between the lymphocytes and the tissue might exist. The phenotype of patients with mosaicism is related with the individual proportions of gonadal cell lines.
authors.affiliation: Department of Obstetrics and Gynecology, China Medical College Hospital, Taichung, Taiwan.
authors.forename: Yao-Yuan
authors.initials: YY
authors.lastname: Hsieh
authors.forename: Wu-Chou
authors.initials: WC
authors.lastname: Lin
authors.forename: Chi-Chen
authors.initials: CC
authors.lastname: Chang
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Ming-Tsung
authors.initials: MT
authors.lastname: Yu
authors.forename: Horng-Der
authors.initials: HD
authors.lastname: Tsai
authors.forename: Chang-Hai
authors.initials: CH
authors.lastname: Tsai
mesh_terms: D002648:Child; D041322:Chromosomes, Human, Y; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics*