Turner syndrome with pseudodicentric Y chromosome mosaicism.
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.
Hsieh
Yao-Yuan
YY
Department of Obstetrics and Gynecology, China Medical College Hospital, Taichung, Taiwan.
Lin
Wu-Chou
WC
Chang
Chi-Chen
CC
Tsai
Fuu-Jen
FJ
Yu
Ming-Tsung
MT
Tsai
Horng-Der
HD
Tsai
Chang-Hai
CH
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*