Services on Demand
Journal
Article
Spanish (pdf)
Article in xml format
Article references
Automatic translation
Send this article by e-mailIndicators
Cited by SciELO 
Access statistics
Related links
Similars in
SciELO
Share
Permalink
Boletín médico del Hospital Infantil de México
Print version ISSN 1665-1146
Abstract
CAMMARATA-SCALISI, Francisco; BRICENO, Yajaira; CEGARRA, Edymar and 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.
Keywords : Ring chromosome 13; 46, XY, r (13); Clinic; Genetic counselling.
