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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Original Publication URL: http://smj.sma.org.sg/4904/4904cr10.pdf

Description/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

Item Type: Article
ISSNs: 0037-5675 (print)
Related URLs:
Keywords: y, spectral karyotyping,preschool, tissue distribution,mixed, report, fluorescence, methods, clitoris, humans,abnormalities, phenotype, gonadal dysgenesis, turner syndrome, singapore
Subjects: R Medicine
Q Science > QR Microbiology
Divisions: University Structure - Pre August 2011 > School of Medicine
University Structure - Pre August 2011 > School of Medicine > Human Genetics
ePrint ID: 59767
Date Deposited: 04 Sep 2008
Last Modified: 27 Mar 2014 18:41
URI: http://eprints.soton.ac.uk/id/eprint/59767

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