PDF(Pubmed)
Abstract：
Turner syndrome (TS) is the most frequently detected chromosomal abnormality in females caused by the partial or complete absence of second X chromosome. Due to varied phenotypical presentation, the diagnosis of TS can create a spectrum of clinical concerns related to morbidity and mortality. At least 10% of Turner females exhibit the presence of Y chromosome or Y-derived sequences. Patients with 45,X/46,XY mosaicism may have a phenotypic variation of the external genitalia and exhibit features ranging from normal male to ambiguous to female genitalia with features of TS. Turner mosaic variants with Y chromosome components have increased risk for gonadoblastoma. Although the risk is not exactly quantifiable, according to the 2016 Cincinnati International TS Meeting Clinical Practice guidelines, bilateral prophylactic gonadectomy is mandatory if Y chromosomal component is identified in mosaic Turner. We describe a rare case of an adult female patient detected as mosaic Turner variant with the presence of Y chromosome and reconfirmed by an aneuploidy FISH probe.
摘要：
特纳综合征（TS）是由第二X染色体部分或完全缺失引起的女性最常检测到的染色体异常。由于不同的表型表现，TS的诊断可以产生一系列与发病率和死亡率相关的临床问题.至少10%的特纳雌性表现出Y染色体或Y衍生序列的存在。患有45，X/46，XY镶嵌的患者可能具有外生殖器的表型变异，并表现出从正常男性到模棱两可到具有TS特征的女性生殖器的特征。具有Y染色体成分的Turner马赛克变体增加了性腺母细胞瘤的风险。尽管风险不能完全量化，根据2016年辛辛那提国际TS会议临床实践指南，如果在马赛克Turner中鉴定出Y染色体成分，则必须进行双侧预防性性腺切除术。我们描述了一例罕见的成年女性患者，该患者被检测为马赛克Turner变体，并存在Y染色体，并通过非整倍性FISH探针再次确认。
