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Case Reports
. 2019;76(2):100-103.
doi: 10.24875/BMHIM.18000108.

Cromosoma 13 en anillo

Francisco Cammarata-Scalisi  1 , Yajaira Briceño  2 , Edymar Cegarra  3 , Daniela Montilla  4
Affiliations
Case Reports

Cromosoma 13 en anillo

Francisco Cammarata-Scalisi et al. Bol Med Hosp Infant Mex. 2019.

Abstract
in English, Spanish

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.

Introducción: El cromosoma 13 en anillo es una alteración citogenética infrecuente, clínicamente caracterizada por presentar retraso del crecimiento, del desarrollo psicomotor y déficit cognitivo, además de microcefalia, dismorfia facial, alteraciones genitales e hipoplasia del pulgar.

Caso clínico: Paciente de 8 meses de edad evaluado por presentar talla baja, retraso del desarrollo psicomotor, microcefalia, dismorfia facial, hipospadias peneoescrotales e hipoplasia de pulgar. Se evidenció lisencefalia, hipoacusia neuroconductiva del lado derecho y comunicación interauricular tipo ostium secundum pequeña. El estudio citogenético del paciente mostró 46, XY, r (13) en 30 células analizadas.

Conclusiones: Se resaltan los hallazgos clínicos que pueden orientar el diagnóstico de esta alteración cromosómica estructural infrecuente, destacando además, la evaluación médica interdisciplinaria requerida y el adecuado asesoramiento genético familiar.

Keywords: 46, XY, r (13); Asesoramiento genético; Clinic; Clínica; Cromosoma 13 en anillo; Genetic counseling; Ring chromosome 13.

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