Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis.
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.
Gole
L A
LA
Department of Obstetrics and Gynaecology, National University of Singapore, 5 Lower Kent Ridge Road, Singapore 119074. leenagole@gmail.com
Lim
J
J
Crolla
J A
JA
Loke
K Y
KY
D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics*; D002987:Clitoris / Q000002:abnormalities; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D032681:Spectral Karyotyping / Q000379:methods; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*