48,XYYY: A Rare Case Report-Reference-Cited by-同舟云学术

48,XYYY: A Rare Case Report

Published:2021-11-01 Issue:2 Volume:24 Page:103-106
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:en
Short-container-title:

Author:

Sabnis AS¹,Bhusare D²

Affiliation:

1. Department of Anatomy , MGM Medical College and Hospital , Kamothe , Navi Mumbai , India

2. Department of Pediatric Surgery , MGM Medical College and Hospital , Kamothe , Navi Mumbai , India

Abstract

Abstract 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.

Publisher

Walter de Gruyter GmbH

Subject

Genetics (clinical),Genetics

Link

https://www.sciendo.com/pdf/10.2478/bjmg-2021-0029

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