Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review

IF 1.3 4区 医学 Q3 PEDIATRICS Congenital Anomalies Pub Date : 2025-01-01 DOI:10.1111/cga.70002
Miki Tanoshima, Reo Tanoshima, Hajime Takase, Daisuke Yamamoto, Shigeru Aoki, Hideya Sakakibara, Etsuko Miyagi
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Abstract

Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies find it difficult to predict phenotypes from karyotypes due to the presence of mosaicism. The purpose of this study is to clarify the relationship between karyotype and phenotype in Turner syndrome with non-mosaic X chromosome structural rearrangements. A systematic literature search was conducted using Medline and Embase classics plus Embase between 1947 and September 2023. A total of 487 Turner women with non-mosaic X chromosome structural rearrangements were included from the 69 studies. The prevalence of short stature was 72.4% in Turner syndrome with non-mosaic X chromosome structural rearrangements, 80.1% in the short arm deletion group (del (Xp)), 75% in the del(X)(p22.3) group, 65.8% in the del(X)(p21) and del(X)(p22) group, and 37.5% (20%–66.7%) in the long arm deletion group (del(Xq)). The prevalence of ovarian dysfunction was 78.8% in Turner syndrome with non-mosaic X chromosome structural rearrangements, 72.5% in the del (Xp) group, 27.6% in the del (X)(p22.3) group, 33.3% in the del (X)(p21) and del(X)(p22) group, and 94.6% in the del (Xq) group. The recognition of X chromosome breakpoints is useful in the management of Turner syndrome complications, since some phenotypes are unique depending on the deletion region. Ovarian dysfunction is significantly related to karyotype, so the identification of karyotypes in Turner syndrome is important for managing ovarian dysfunction and predicting future fertility.

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特纳综合征与非镶嵌X染色体结构重排的核型和表型关联:系统综述。
特纳综合征是一种染色体疾病,其特征是一条X染色体的部分或全部缺失,导致各种核型,可能导致不同的表型。然而,由于嵌合体的存在,大多数研究发现很难从核型预测表型。本研究的目的是阐明特纳综合征非镶嵌X染色体结构重排的核型和表型之间的关系。在1947年至2023年9月期间,使用Medline和Embase经典加上Embase进行了系统的文献检索。69项研究共纳入了487名非镶嵌X染色体结构重排的特纳妇女。Turner综合征伴非嵌合X染色体结构重排者身材矮小的发生率为72.4%,短臂缺失组(del(Xp))为80.1%,del(X)(p22.3)组为75%,del(X)(p21)和del(X)(p22)组为65.8%,长臂缺失组(del(Xq))为37.5%(20% ~ 66.7%)。伴有非镶嵌X染色体结构重排的Turner综合征卵巢功能障碍患病率为78.8%,del(Xp)组为72.5%,del(X)(p22.3)组为27.6%,del(X)(p21)和del(X)(p22)组为33.3%,del(Xq)组为94.6%。识别X染色体断点在特纳综合征并发症的管理是有用的,因为一些表型是独特的取决于缺失区域。卵巢功能障碍与核型有显著相关性,因此鉴定特纳综合征的核型对管理卵巢功能障碍和预测未来生育能力具有重要意义。
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
Congenital Anomalies
Congenital Anomalies PEDIATRICS-
自引率
0.00%
发文量
49
审稿时长
>12 weeks
期刊介绍: Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.
期刊最新文献
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