Share this Article
Singapore Med J 2008; 49(4):349-351
Gonadal mosaicism 45,X/46,X,psu dic (Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis
Gole LA, Lim J, Crolla JA, Loke KY
Correspondence: Dr Leena Gole, firstname.lastname@example.org
A two-year-and-eight-month-old girl presented with clitoromegaly and short stature. Two cell lines, 45,X and 46,X,idic(Y)(q11.2), were observed. Cytogenetic and fluorescence in situ hybridisation investigations were carried out on her peripheral lymphocytes and gonadal cells, to determine the genotype-phenotype effect with respect to differential tissue distribution, effects of the sex determining region of the Y chromosome, and the break-points in the azoospermia factor region.
Keywords: fluorescence in situ hybridisation, gonadal dysgenesis, mosaicism, sex chromosome aberrations, Turner syndrome
Singapore Med J 2008; 49(4): 349-351