48,XYYY: A Rare Case Report

A case study of a 4 year old child with hypospadias and cryptorchidism on the right side is presented. Combined analysis by Karyotype and FISH showed a mosaic pattern of 48, XYYY (73%); 47,XYY (7%); 46,XY (7%) and 45,X (13%). Apart from hypospadias and cryptorchidism there were no significant phenot...

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Detalles Bibliográficos
Autores principales: Sabnis, AS, Bhusare, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524172/
https://www.ncbi.nlm.nih.gov/pubmed/36249521
http://dx.doi.org/10.2478/bjmg-2021-0029
Descripción
Sumario:A case study of a 4 year old child with hypospadias and cryptorchidism on the right side is presented. Combined analysis by Karyotype and FISH showed a mosaic pattern of 48, XYYY (73%); 47,XYY (7%); 46,XY (7%) and 45,X (13%). Apart from hypospadias and cryptorchidism there were no significant phenotypic changes observed. Inheritance of this clonal abnormality was ruled out as the karyotype patterns of the child's father and brother both showed a normal karyotype. For further management, genetic counseling, and the correction of hypospadias and the undescended testis were recommended.

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