Servicios Personalizados
Revista
Articulo
Español (pdf)
Artículo en XML
Referencias del artículo
Traducción automática
Enviar artículo por emailIndicadores
Citado por SciELO 
Accesos
Links relacionados
Similares en
SciELO
Compartir
Permalink
Boletín médico del Hospital Infantil de México
versión impresa ISSN 1665-1146
Resumen
CAMMARATA-SCALISI, Francisco; BRICENO, Yajaira; CEGARRA, Edymar y MONTILLA, Daniela. Ring chromosome 13. Bol. Med. Hosp. Infant. Mex. [online]. 2019, vol.76, n.2, pp.100-103. ISSN 1665-1146. https://doi.org/10.24875/bmhim.18000108.
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.
Palabras llave : Ring chromosome 13; 46, XY, r (13); Clinic; Genetic counselling.
