<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Karyotype investigations using classical cytogenetics, fluorescence <italic>in situ</italic> 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.</p></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.

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

"Victor Babes" National Institute of Pathology, Bucharest, Romania

Children Hospital "Marie Curie", Bucharest, Romania

"Prof. dr. Alexandru Obregia" Clinical Hospital of Psychiatry, Bucharest, Romania

Institute for Human Biology, Hamburg University, Germany

Balkan Journal of Medical Genetics

Karyotype investigations using classical cytogenetics, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were used for...

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

Publié en ligne: 06 mai 2009

Pages: 51 - 58

DOI: https://doi.org/10.2478/v10034-008-0024-y

Mots clés
Ambiguous genitalia, Fluorescence hybridization (FISH) techniques, Isodicentric [idic(Y)] chromosome, Polymerase chain reaction (PCR) markers, Turner syndrome features

This content is open access.

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

Publié en ligne: 06 mai 2009

Pages: 51 - 58

DOI: https://doi.org/10.2478/v10034-008-0024-y

Mots clésAmbiguous genitalia, Fluorescence hybridization (FISH) techniques, Isodicentric [idic(Y)] chromosome, Polymerase chain reaction (PCR) markers, Turner syndrome features

This content is open access.

Mots clés
Ambiguous genitalia, Fluorescence hybridization (FISH) techniques, Isodicentric [idic(Y)] chromosome, Polymerase chain reaction (PCR) markers, Turner syndrome features