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), pp. 349-351.

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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)
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Keywords: y, spectral karyotyping, preschool, tissue distribution, mixed, report, fluorescence, methods, clitoris, humans, abnormalities, phenotype, gonadal dysgenesis, turner syndrome, singapore
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ePrint ID: 59767
Date :
Date Event
April 2008Published
Date Deposited: 04 Sep 2008
Last Modified: 16 Apr 2017 17:33
Further Information:Google Scholar
URI: http://eprints.soton.ac.uk/id/eprint/59767

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