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Ring chromosomes are circular structures formed as a result of breaks in the chromosome arms and the fusion of the proximal broken ends with a loss of distal material, or by fusion of dysfunctional telomeres without any loss. The mechanism underlying this process has not yet been sufficiently explained. Commonly, rings occur as acquired genetic abnormalities; however, sometimes they are found as constitutional aberrations with a prevalence of around 1:50,000 live births. Here, we present a new case of r(9) in a female fetus with intrauterine growth retardation and slight craniofacial dysmorphisms. Both parents had a normal phenotype. Amniotic fluid karyotype showed r(9)(p24q34). An array CGH revealed 3 deletion segments: a ring chromosome with a 2.57-Mb deletion at 9pterp24.2 (chr9:163,131-2,729,722), a 2.60-Mb deletion at 9q34.3qter (chr9:138,523,302-141,122,055), and also a 0.15-Mb interstitial deletion at 9p24.1 (chr9:5,090,443-5,235,765). These deletions overlap with proposed regions for the 9p24.3 deletion and Kleefstra syndrome. Segregation analysis revealed a maternal origin of the rearranged chromosome. We conclude that both the ring chromosome and the interstitial deletion occurred de novo. This last deletion has not been reported before. Prenatal array CGH, combined with fine mapping of breakpoints contributes to the assessment of genotype-phenotype correlations.

Resumen: Objetivos. Presentar nuestra experiencia en el manejo y aplicación de biomateriales no reabsorbibles (poliaquilamida) en pacientes con defectos faciales de diversa etiología. Material y métodos. Empleamos poliaquilamida (Bio-Alcamid ® ) en un total de catorce pacientes. Cuatro pacientes presentaban distintos grados de lipodistrofia facial secundaria a tratamientos antiretrovirales. Otros cuatro, consultaron porque deseaban mejorar el aspecto de su perfil labial. Tres pacientes habían sido sometidos con anterioridad a exéresis oncológicas, y otros dos mostraban defectos faciales derivados de traumatismos. Finalmente, un paciente presentaba un defecto nasal, secuela de una rinoplastia previa. Resultados. Todos los pacientes mostraron un índice muy elevado de satisfacción. No se registraron complicaciones graves. Queremos señalar la estabilidad y durabilidad del implante. Conclusiones. La seguridad y sencillez de esta técnica asociada al alto grado de satisfacción manifestado por los pacientes, animan al empleo de estas sustancias en la corrección de defectos faciales de diversa etiología.

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