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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688273PMC
http://dx.doi.org/10.4103/jhrs.jhrs_71_23DOI Listing

Publication Analysis

Top Keywords

mosaic turner
12
turner variant
8
adult female
8
presence chromosome
8
turner
5
mosaic
4
variant adult
4
female presenting
4
presenting xo/xy
4
xo/xy karyotype
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!