48、XYYY:一份罕见病例报告。

IF 0.5 4区医学 Q4 GENETICS & HEREDITY

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI:10.2478/bjmg-2021-0029

A S Sabnis, D Bhusare

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引用次数: 0

摘要

一个病例研究的4岁儿童与尿道下裂和隐睾右侧提出。结合核型分析和FISH分析，显示48,xyyy(73%)的镶嵌模式;47岁的XYY (7%);46,XY(7%)和45,X (13%)除尿道下裂和隐睾外，未见明显的表型变化。这种克隆异常的遗传被排除，因为孩子的父亲和兄弟的核型模式都显示正常核型。对于进一步的治疗，建议进行遗传咨询，并矫正尿道下裂和隐睾。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

48,XYYY: A Rare Case Report.

查看原文本刊更多论文

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 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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来源期刊

Balkan Journal of Medical Genetics 医学-遗传学

CiteScore

1.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.