Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2)

Article ID	Journal	Published Year	Pages	File Type
2817506	Gene	2013	7 Pages	PDF

Abstract

âº Multi disciplinary approach is integrated with genetic counseling. âº The characterization of the first adult case (6th) is obtained. âº Diagnostic algorithm for different clinical situations with der/mar(Y) is proposed. âº More precise genotype-phenotype correlation will be obtained.

Keywords

Y translocation CGH Array-CGH Centromere CBG AZF Cy3 ISH azoospermia factor Cy5 CEN BACS DER DNA copy number ARR sex determining region Y mega base In situ hybridization CEP Testicular sperm extraction Translocation ISO TESE Assisted reproductive technology TER Microarray Sry Cyanine 3 cyanine 5 fluorescence in situ hybridization Fish ART polymerase chain reaction PCR Kilo base derivative chromosome bacterial artificial chromosomes

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

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Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2)

Authors

Nenad Bukvic, Carla Cesarano, Caterina Ceccarini, Marianna Bruno, Maria Rosaria Lipsi, Maria Grazia Gallicchio, Maria Assunta Carboni, Lucia Valente, Giulia Cotoia, Raffaele Antonetti,