Tanoshima Miki, Tanoshima Reo, Takase Hajime, Yamamoto Daisuke, Aoki Shigeru, Sakakibara Hideya, Miyagi Etsuko
Department of Clinical Genetics, Yokohama City University Medical Center, Yokohama, Japan.
Perinatal Center for Maternity and Neonate, Yokohama City University Medical Center, Yokohama, Japan.
Congenit Anom (Kyoto). 2025 Jan-Dec;65(1):e70002. doi: 10.1111/cga.70002.
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.
特纳综合征是一种染色体疾病，其特征是一条X染色体部分或全部缺失，导致各种核型，可能会导致不同的表型。然而，由于存在嵌合体，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非嵌合型X染色体结构重排的特纳综合征患者的核型与表型之间的关系。我们使用1947年至2023年9月期间的Medline、Embase经典数据库以及Embase进行了系统的文献检索。从69项研究中纳入了总共487例非嵌合型X染色体结构重排的特纳综合征女性患者。在非嵌合型X染色体结构重排的特纳综合征患者中，身材矮小的患病率为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%）。在非嵌合型X染色体结构重排的特纳综合征患者中，卵巢功能障碍的患病率为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染色体断点对特纳综合征并发症的管理有用，因为某些表型取决于缺失区域而具有独特性。卵巢功能障碍与核型显著相关，因此在特纳综合征中识别核型对于管理卵巢功能障碍和预测未来生育能力很重要。
