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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.

Record type: Article

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

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More information

Published date: April 2008
Keywords: y, spectral karyotyping, preschool, tissue distribution, mixed, report, fluorescence, methods, clitoris, humans, abnormalities, phenotype, gonadal dysgenesis, turner syndrome, singapore

Identifiers

Local EPrints ID: 59767
URI: http://eprints.soton.ac.uk/id/eprint/59767
ISSN: 0037-5675
PURE UUID: a2ae64cd-a52c-47d4-adda-68b4b4262565

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 17 Jul 2017 14:24

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