Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis

Please use this identifier to cite or link to this item: https://scholarbank.nus.edu.sg/handle/10635/107571

Title:	Gonadal mosaicism 45,X/46,X,psu dic(Y)(q11.2) resulting in a Turner phenotype with mixed gonadal dysgenesis
Authors:	Gole, L.A. Lim, J. Crolla, J.A. Loke, K.Y.
Keywords:	Fluorescence in situ hybridisation Gonadal dysgenesis Mosaicism Sex chromosome aberrations Turner syndrome
Issue Date:	Apr-2008
Citation:	Gole, L.A.,Lim, J.,Crolla, J.A.,Loke, K.Y. (2008-04). 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. ScholarBank@NUS Repository.
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.
Source Title:	Singapore Medical Journal
URI:	http://scholarbank.nus.edu.sg/handle/10635/107571
ISSN:	00375675
Appears in Collections:	Staff Publications

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