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|Title:||Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis|
|Authors:||Gole, L.A. |
|Keywords:||Fluorescence in situ hybridisation|
Sex chromosome aberrations
|Citation:||Gole, L.A.,Lim, J.,Crolla, J.A.,Loke, K.Y. (2008-04). Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis. Singapore Medical Journal 49 (4) : 349-351. ScholarBank@NUS Repository.|
|Abstract:||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.|
|Source Title:||Singapore Medical Journal|
|Appears in Collections:||Staff Publications|
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