A Phenotypically Normal Female with Pseudodicentric X: Correlation for Statural Genes

LA Gole, V Annapoorna, J Lim, C Anandakumar
Correspondence: L A Gole, obggolel@nus.edu.sg

ABSTRACT
A 14-year-old Chinese female presenting with primary amenorrhoea and poorly developed secondary sexual characteristics is described here. Cytogenetic analysis showed the presence of one normal X along with a dicentric X which had a duplication of the entire chromosome from the band Xp22.1 to Xqter. She was karyotyped as 46, XX, psu dic X (p22.1) (Xqter:Xp22.1::Xp22.1:Xqter), a variant of Turner syndrome. Both parents and a younger sister had normal karyotypes. FISH with X centromeric probes was a useful test for confirmation of the two centromeres and also in ruling out the presence of a monosomic or normal diploid X cell line.

Keywords: Turner syndrome, X chromosome, fluorescence in-situ hybridisation (FISH), phenotypic-karyotypic correlation for statural genes
Singapore Med J 2001; 42(9): 428-429