CHROMOSOME 10 RING SYNDROME. ABOUT A CLINICAL CASE
DOI:
https://doi.org/10.61651/rped.2025v77n1p35-38Keywords:
Chromosomes, chromosomopathies,, hypotonia, karyotype.Abstract
Ring chromosome 10 syndrome is a rare genetic disease, with only 19 cases reported in the literature. We present the first case in Colombia, it is a 3-year-old girl with developmental delay, microcephaly, hypotonia and recurrent infections. The patient presented dysmorphic features such as micrognathia, hypertelorism and clinodactyly, accompanied by hypogammaglobulinemia and hydroureteronephrosis. A genetic study revealed a ring chromosome 10 with loss of distal segments, confirmed by 46XX,r(10) (p15q26) karyotype. The diagnosis of this chromosomal alteration is complex and requires advanced cytogenetic studies such as array-CHG for confirmation. The importance of hypotonia and the psychological disorders associated with this condition is highlighted. This case highlights the importance of a thorough clinical evaluation for the early identification and management of ring chromosome 10 syndrome, which could improve the patient’s quality of life and better guide future medical interventions.
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Copyright (c) 2025 Jorge Andres Hernández Navas, Juan Therán Leon, Valentina Ochoa Castellanos, Angie Prada Rodríguez, Miguel García Brilla, Faber Díaz Garcés, Danuil Lobo Quintero
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