A Case of Chimeric Turner Syndrome with Normal Reproductive Function.

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY Clinical laboratory Pub Date : 2024-10-01 DOI:10.7754/Clin.Lab.2024.240504

Weiping Chen, Caiping Chen, Xiaoliang Shi

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Abstract

Background: Turner syndrome (TS) is a common sex chromosome disorder with the highest incidence among chromosomal abnormalities. Most of the patients showed short stature, small uterus, ovarian atrophy with a stringy shape, external genital dysplasia, primary amenorrhea, infertility, breast agenesis, and other symptoms which are important causes of female infertility.

Methods: Peripheral blood lymphocytes were cultured with 1,640 medium for 72 hours. The chromosome karyotypes were counted and analyzed after hypotonic operation, fixation, drop operation, and G-banding operation.

Results: The peripheral blood chromosome karyotype of the pregnant woman was 45,X,9qh+[25]/46,XX,9qh+[75]. The case was a patient with chimeric TS, and her chromosome 9 was polymorphic.

Conclusions: The clinical phenotype of patients with chimeric TS cannot be determined solely by chromosome karyotype. The influences of somatic mosaics and X chromosome inactivation and other factors on the clinical phenotype should be considered. This study enriched the theoretical basis for prenatal diagnosis and genetic counseling of chimeric TS.

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一个生殖功能正常的嵌合型特纳综合征病例。

背景：特纳综合征（TS）是一种常见的性染色体疾病，在染色体异常中发病率最高。大多数患者表现为身材矮小、子宫小、卵巢萎缩呈串珠状、外生殖器发育不良、原发性闭经、不孕、乳房发育不全等症状，是导致女性不孕的重要原因：方法：外周血淋巴细胞用 1 640 培养基培养 72 小时。方法：用 1 640 培养基培养外周血淋巴细胞 72 小时，在低渗操作、固定、滴注操作和 G 带操作后对染色体核型进行计数和分析：结果：孕妇外周血染色体核型为 45,X,9qh+[25]/46,XX,9qh+[75]。该病例为嵌合型 TS 患者，其 9 号染色体呈多态性：结论：嵌合型 TS 患者的临床表型不能仅由染色体核型决定。结论：嵌合型 TS 患者的临床表型不能仅由染色体核型决定，还应考虑体细胞嵌合、X 染色体失活等因素对临床表型的影响。这项研究丰富了嵌合型TS产前诊断和遗传咨询的理论基础。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.

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