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...

Descripción completa

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
_version_ 1784800448570458112
author Sabnis, AS
Bhusare, D
author_facet Sabnis, AS
Bhusare, D
author_sort Sabnis, AS
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9524172
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Sciendo
record_format MEDLINE/PubMed
spelling pubmed-95241722022-10-14 48,XYYY: A Rare Case Report Sabnis, AS Bhusare, D Balkan J Med Genet 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 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. Sciendo 2022-06-05 /pmc/articles/PMC9524172/ /pubmed/36249521 http://dx.doi.org/10.2478/bjmg-2021-0029 Text en © 2021 AS Sabnis et al., published by Sciendo https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
spellingShingle Case Report
Sabnis, AS
Bhusare, D
48,XYYY: A Rare Case Report
title 48,XYYY: A Rare Case Report
title_full 48,XYYY: A Rare Case Report
title_fullStr 48,XYYY: A Rare Case Report
title_full_unstemmed 48,XYYY: A Rare Case Report
title_short 48,XYYY: A Rare Case Report
title_sort 48,xyyy: a rare case report
topic Case Report
url 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
work_keys_str_mv AT sabnisas 48xyyyararecasereport
AT bhusared 48xyyyararecasereport

Ejemplares similares