44,X,der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27] a Case Study of Mosaicism with Menstrual Disorders.

IF 0.6 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Clinical laboratory Pub Date : 2025-09-01 DOI:10.7754/Clin.Lab.2025.250236

Cong Liu, Yan Lin, Mihua Liu

{"title":"44,X,der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27] a Case Study of Mosaicism with Menstrual Disorders.","authors":"Cong Liu, Yan Lin, Mihua Liu","doi":"10.7754/Clin.Lab.2025.250236","DOIUrl":null,"url":null,"abstract":"Background: Turner syndrome (TS), also known as congenital ovarian hypoplasia, is one of the most common sex chromosome diseases in women. It is caused by the complete or partial deletion or structural change of one X chromosome in all or part of somatic cells. A rare case of karyotype Turner syndrome is reported.Methods: A 16-year-old female presented with oligomenorrhea and a history of menstrual irregularities. Menarche occurred at age 14, followed by only one menstrual period in the same year. Her second menstruation occurred a year later at age 15, with no menstruation thereafter. Peripheral venous blood was collected after obtaining informed consent. Routine lymphocyte culture and G-banding analysis revealed mosaic karyotypes: 44,X, der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27].Conclusions: Menstrual disorders are very common nowadays and generally related to personal stress, endocrine system, etc., and may also be related to sex chromosomes. This case is caused by the abnormal structure and number of sex chromosomes.","PeriodicalId":10384,"journal":{"name":"Clinical laboratory","volume":"71 9","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical laboratory","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7754/Clin.Lab.2025.250236","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Turner syndrome (TS), also known as congenital ovarian hypoplasia, is one of the most common sex chromosome diseases in women. It is caused by the complete or partial deletion or structural change of one X chromosome in all or part of somatic cells. A rare case of karyotype Turner syndrome is reported.

Methods: A 16-year-old female presented with oligomenorrhea and a history of menstrual irregularities. Menarche occurred at age 14, followed by only one menstrual period in the same year. Her second menstruation occurred a year later at age 15, with no menstruation thereafter. Peripheral venous blood was collected after obtaining informed consent. Routine lymphocyte culture and G-banding analysis revealed mosaic karyotypes: 44,X, der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27].

Conclusions: Menstrual disorders are very common nowadays and generally related to personal stress, endocrine system, etc., and may also be related to sex chromosomes. This case is caused by the abnormal structure and number of sex chromosomes.

查看原文本刊更多论文

44，X,der(21;22)(q10;q10)[43]/45，XX,der(21;22)(q10;q10)[27]：月经紊乱与马赛克现象的个案研究。

背景：特纳综合征（Turner syndrome， TS）又称先天性卵巢发育不全，是女性最常见的性染色体疾病之一。它是由体细胞的全部或部分X染色体的完全或部分缺失或结构改变引起的。报告一例罕见的核型特纳综合征。方法：一名16岁女性，以月经少经和月经不规律史为主要表现。初潮发生在14岁，随后一年只有一次月经。她的第二次月经发生在一年后的15岁，此后没有月经。获得知情同意后采集外周静脉血。常规淋巴细胞培养和g带分析显示嵌合体核型：44，X, der(21;22)(q10;q10)[43]/45，XX,der(21;22)(q10;q10)[27]。结论：月经紊乱在当今非常普遍，一般与个人压力、内分泌系统等有关，也可能与性染色体有关。这种情况是由性染色体的结构和数量异常引起的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.