A phenotypically normal female with pseudodicentric X: correlation for statural genes.
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.
Gole
L A
LA
Department of Obstetrics and Gynaecology, National University Hospital, Singapore. obggolel@nus.edu.sg
Annapoorna
V
V
Lim
J
J
Anandakumar
C
C
D000293:Adolescent; D001827:Body Height / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*