Unifying Unexplained Symptoms Through Genetic Testing: Triple X Syndrome and Uniparental Disomy 6

Authors

Yekaterina Spivak, Virginia University of LynchburgFollow

Specialty

Pediatrics, Electrophysiology

Advisor

Dr. Colletti

Abstract

In children who present with multiple and seemingly unrelated symptoms, genetic testing may provide the missing link. This consideration is especially important when patients lack equitable access because testing facilitates comprehensive and proactive care. This study presents a case report of such a patient.

Triple X syndrome (47,XXX) is the most common female chromosomal abnormality but is clinically recognized in only about 10% of cases. Presentations vary widely, ranging from tall stature and developmental delay to behavioral, reproductive, and seizure disorders. Early identification through genetic testing allows anticipatory guidance, yet access remains uneven, particularly among immigrant populations.

A 13-year-old girl who recently immigrated from Ukraine presented to a primary care clinic in United States to establish care. Her history included neonatal diabetes, tall stature, developmental delay, and irregular menses, which have been addressed individually but not connected by an underlying diagnosis. Genetic testing revealed both Triple X syndrome and uniparental disomy of chromosome 6 (UPD6). This dual diagnosis provided a unifying framework for her complex medical profile, encompassing premature ovarian insufficiency, recurrent diabetes, and behavioral challenges.

Her case illustrates the value of genetic testing in clarifying overlapping conditions, enabling coordinated multidisciplinary management, and guiding long-term surveillance. The UPD6 diagnosis heightened the need for vigilant endocrine monitoring, while the Triple X diagnosis underscored risks for neurocognitive and gynecologic complications.

This case highlights the inequities of limited access to genetic testing. For patients from resource-limited settings, delayed diagnosis can lead to fragmented and reactive care. Expanding access ensures timely recognition, personalized management, and improved outcomes for children with rare and overlapping genetic conditions.

Recommended Citation

Spivak Y. Unifying Unexplained Symptoms Through Genetic Testing: Triple X Syndrome and Uniparental Disomy 6. University of Lynchburg DMSc Doctoral Project Assignment Repository. 2025; 7(3).