Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis
Gole, L.A., Lim, J., Crolla, J.A. and Loke, K.Y. (2008) 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.
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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:||y, spectral karyotyping,preschool, tissue distribution,mixed, report, fluorescence, methods, clitoris, humans,abnormalities, phenotype, gonadal dysgenesis, turner syndrome, singapore|
Q Science > QR Microbiology
|Divisions:||University Structure - Pre August 2011 > School of Medicine
University Structure - Pre August 2011 > School of Medicine > Human Genetics
|Date Deposited:||04 Sep 2008|
|Last Modified:||01 Jun 2011 09:44|
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
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