CHROMOSOME Y ISODICENTRICS IN TWO CASES WITH AMBIGUOUS GENITALIA AND FEATURES OF TURNER SYNDROME
Lungeanu A1,*, Arghir A1, Arps S2, Cardos G1, Dumitriu N3, Budisteanu M4, Chirieac S1, Rodewald A5
*Corresponding Author: Agripina Lungeanu, Ph.D., Senior Scientist, Head of Medical Genetics Laboratory, “Victor Babes” National Institute of Pathology, 99-101 Splaiul Independentei, Bucharest 050096, Romania; Tel.: +40-021-319-27-32/218; Fax: +40-021-319-45-28; e-mail: genetica@vbabes.ro
page: 51
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Abstract

   Karyotype investigations using classical cytogenetics, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45,X[90]/ 46,X,idic(Y)(p11.3).ish idic(Y)(wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45,X[65]/46,X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.          

   Key words: Ambiguous genitalia; Fluorescence in situ hybridization (FISH) techniques; Isodicentric(idic(Y) chromosome; Polymerase chain reaction (PCR) markers ; Turner syndrome features

 

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 1 “Victor Babes” National Institute of Pathology, Bucharest, Romania

 2 genteQ, Hamburg, Germany

 3 Children Hospital “Marie Curie”, Bucharest, Romania

 4 “Prof. dr. Alexandru Obregia” Clinical Hospital of Psychiatry, Bucharest, Romania

 5 Institute for Human Biology, Hamburg University, Germany






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