LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature

Zhang, Xinyue; Zhang, Hongguo; Hu, Cong; Wang, Ruixue; Xi, Qi; Liu, Ruizhi.

Int. braz. j. urol; 44 (4), 2018

ABSTRACT Objective: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. Materials and Methods: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic an...

Puntos de Rotura del Cromosoma, Cromosomas Humanos Par 2/genética, Análisis Citogenético, Tamización de Portadores Genéticos, Asesoramiento Genético, Infertilidad Masculina/genética, Resultado del Embarazo, Estándares de Referencia, Análisis de Semen, Translocación Genética/genética

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Retrospective karyotype study in mentally retarded patients

SUMMARY Objective: To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. Method: A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements fou...