Browsing by Autor "Edymar Cegarra"

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    Cromosoma 13 en anillo
    (Elsevier BV, 2019) Francisco Cammarata‐Scalisi; Yajaira Briceño; Edymar Cegarra; Daniela Montilla
    Clinical findings that can guide the diagnosis of this infrequent structural chromosomal alteration are highlighted, as well as the interdisciplinary medical evaluation required and adequate family genetic counseling.
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    Ring chromosome 13
    (2020) Francisco Cammarata‐Scalisi; Yajaira Briceño; Edymar Cegarra; Daniela Montilla
    Background: Ring chromosome 13 is an infrequent cytogenetic disorder clinically characterized by growth and psychomotor development retardation, cognitive deficit, microcephaly, facial dysmorphism, genital alterations and thumb hypoplasia. Case report: A 8-month-old patient was evaluated for presenting short stature, psychomotor development delay, microcephaly, facial dysmorphism, penoscrotal hypospadias and thumb hypoplasia. Lissencephaly, neuroconductive hearing loss on the right side and small ostium secundum interatrial communication were evident. The cytogenetic study of the patient showed 46, XY, r (13) in 30 cells analyzed. Conclusions: Clinical findings that can guide the diagnosis of this infrequent structural chromosomal alteration are highlighted, as well as the interdisciplinary medical evaluation required and adequate family genetic counseling.