Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis
Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis
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
y, spectral karyotyping, preschool, tissue distribution, mixed, report, fluorescence, methods, clitoris, humans, abnormalities, phenotype, gonadal dysgenesis, turner syndrome, singapore
349-351
Gole, L.A.
c2a80c22-f83e-4c24-b344-362c08614119
Lim, J.
a4652471-f314-43ff-b69b-6623a472e5a8
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Loke, K.Y.
4304172f-7845-4312-af19-0d2fb6e93814
April 2008
Gole, L.A.
c2a80c22-f83e-4c24-b344-362c08614119
Lim, J.
a4652471-f314-43ff-b69b-6623a472e5a8
Crolla, J.A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Loke, K.Y.
4304172f-7845-4312-af19-0d2fb6e93814
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), .
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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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
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Date deposited: 04 Sep 2008
Last modified: 08 Jan 2022 07:08
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Contributors
Author:
L.A. Gole
Author:
J. Lim
Author:
J.A. Crolla
Author:
K.Y. Loke
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