Work

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report

Year: 2025

Type: article

Abstract: ABSTRACT Chinese female with 45,X/46,XX mosaicism and der(X) (Xqter → Xq13?::Xp11.4 → Xqter). SHOX deletion (41.25 Mb) and PLP1 duplication (111.4 Mb) linked to growth/neuro risks. Integrated karyotyping, MLPA, microarray, and STR analysis revealed cryptic X‐chromosome rearrangements, guiding precise breakpoint mapping. Multidisciplinary management (hormone therapy, cardiac monitoring, fertility counseling) is essential for optimizing outcomes in complex TS cases.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.70981

Authors: Weijun Jiang, Tingting Ji, Qiuyue Wu, Zhipeng Xu, Xinyi Xia

Institutions: Nanjing General Hospital of Nanjing Military Command, State Key Laboratory of Analytical Chemistry for Life Science, Southern Medical University, Nanjing University, The Fourth Affiliated Hospital of Soochow University (Suzhou Dushu Lake Hospital)

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820