Cromosoma 13 en anillo.
| Autor: | Cammarata-Scalisi F; Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Facultad de Medicina, Universidad de Los Andes., Briceño Y; Unidad de Endocrinología, Instituto Autónomo Hospital Universitario de Los Andes., Cegarra E; Posgrado de Puericultura y Pediatría, Universidad de Los Andes., Montilla D; Departamento de Microbiología y Parasitología, Cátedra de Inmunología, Facultad de Farmacia y Bioanálisis, Universidad de Los Andes. Mérida, Venezuela. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Boletin medico del Hospital Infantil de Mexico [Bol Med Hosp Infant Mex] 2019; Vol. 76 (2), pp. 100-103. |
| DOI: | 10.24875/BMHIM.18000108 |
| Abstrakt: | 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. (Copyright: © 2019 Permanyer.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|