Chromosomal variant in Klinefelter syndrome, 49,XXXXY: a case report in a Colombian patient
DOI:
https://doi.org/10.17533/10.17533/udea.hm.v12n1a06Keywords:
chromosomal aneuploidy, karyotype, Klinefelter syndrome, phenotype, sex chromosome, 49,XXXXYAbstract
Klinefelter syndrome (47, XXY) is the most frequent sexual chromosomal abnormality in men with musculoskeletal and neurological disorders. (1:650 newborn males). The classic phenotype is tall stature, infertility, gynecomastia, and small testes. The 49, XXXXY is the least common chromosomal variant of Klinefelter Syndrome, with a more severe clinical manifestation. In this article, we describe the first study case of a Colombian patient with syndrome 49, XXXXY, with evidence of dysmorphic traits, musculoskeletal disorders, and general delay in development and language.
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