Unusual clinical findings in a patient with Patau syndrome

Víctor Hugo Guapi-Nauñay; Jonathan Alejandro Mejía-Jiménez; Fabián David Porras-Borja

2024, Number 5

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Rev Mex Pediatr 2024; 91 (5)

Unusual clinical findings in a patient with Patau syndrome

Guapi-Nauñay VH, Mejía-Jiménez JA, Porras-Borja FD

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How to cite this article

10.35366/120168

Language: Spanish
References: 29
Page: 181-187
PDF size: 391.01 Kb.

ABSTRACT

Introduction: chromosome 13 trisomy (Patau syndrome) is characterized by micro/anophthalmia, polydactyly, as well as cleft lip and palate. Objective: to describe the clinical findings in a patient in Ecuador with complete trisomy 13. Clinical case: a three-year-old male patient was evaluated by the Genetics Department. He presented malnutrition, microphthalmia, microcephaly, a parietooccipital alopecia, a notch in each nasal wing, dextrocardia, postaxial polydactyly, and posterior heel prominence. He also had severe delay in neurodevelopment. The cytogenetic study with the GTG banding technique confirmed the diagnosis of 47, XY +13, while the fluorescence in situ hybridization technique in blood lymphocytes showed the presence of three signals for chromosome 13. Conclusion: patients with chromosome 13 trisomy have multiple malformations. We hope that this case helps the timely detection of other patients with similar clinical manifestations.

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