RESUMEN
22q11.2 microdeletion syndrome is a genetic syndrome caused by the deletion of 22q11.21-q11.23 in the proximal long arm microfragment of chromosome 22 for human. TBX1 belongs to the T-box family and is located in 22q11.2 of chromosome. Studies have shown that haploinsufficiency of TBX1 is the main cause of 22q11.2 microdeletion syndrome, which is of great significance for the appearance of its phenotype. Therefore, this paper reviews the research progress of TBX1 in the mechanism of cardiac disease, pulmonary artery phenotype, thymus development, pharyngeal and palatal development, lymphatic formation, and low proliferation of parathyroid tumors.
RESUMEN
22q11.2 microdeletion syndrome is a genetic syndrome caused by the deletion of 22q11.21-q11.23 in the proximal long arm microfragment of chromosome 22 for human. TBX1 belongs to the T-box family and is located in 22q11.2 of chromosome. Studies have shown that haploinsufficiency of TBX1 is the main cause of 22q11.2 microdeletion syndrome, which is of great significance for the appearance of its phenotype. Therefore, this paper reviews the research progress of TBX1 in the mechanism of cardiac disease, pulmonary artery phenotype, thymus development, pharyngeal and palatal development, lymphatic formation, and low proliferation of parathyroid tumors.
RESUMEN
The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ hybridization (FISH). The objectives of this article were to describe the clinical features of 32 patients with 22q11.2 microdeletion and the fndings of other chromosomal abnormalities and genetic syndromes in phenotypically similar patients. This series was made up of 268 patients with clinical criteria supporting the diagnostic suspicion attended at the Hospital de Niños and Hospital Privado, of Córdoba, between March 1st, 2004 and August 31st, 2011. The following parameters were analyzed: age at the time of the diagnosis, sex, clinical manifestations, and mortality. Thirty-two patients (19 males and 13 females) had a positive result for this deletion. The diagnosis was made mostly in their frst months and years of life (age range: 7 days old-31 years old). The clinical manifestations were: congenital heart diseases (22/32), thymic hypoplasia-agenesis/ recurrent infections (10/32), velopalatal insuffciency (8/32). Five patients died; four due to a complication associated with their cardiovascular disease and one due to multiple organ failure. The clinical manifestations of the syndrome were varied.
La microdeleción 22q11.2 es la más frecuente, afecta a 1/4000 a 1/6000 recién nacidos y tiene amplia variabilidad fenotípica. El diagnóstico se realiza por citogenética o hibridación in situ fuorescente (FISH). Los objetivos del presente trabajo fueron describir las características clínicas de 32 pacientes con microdeleción 22q11.2, y los hallazgos de otras anomalías cromosómicas y síndromes genéticos en pacientes fenotípicamente similares. La serie estuvo compuesta por 268 pacientes que tenían criterios clínicos de sospecha diagnóstica asistidos en los hospitales de Niños y Privado de Córdoba, desde el 1 de marzo de 2004 hasta el 31 de agosto de 2011. Se analizaron: edad en el momento del diagnóstico, sexo, manifestaciones clínicas y mortalidad. Resultaron positivos para esta deleción, 32 pacientes (19 varones y 13 mujeres). El diagnóstico se realizó mayoritariamente en los primeros meses y años de vida (rango etario: 7 días a 31 años). Clínica: cardiopatías congénitas (22/32), hipoplasia-agenesia-tímica/ infecciones recurrentes (10/32); hipotonía velopalatina (8/32). Cinco murieron, cuatro por complicación de su patología cardiovascular y uno por falla multisistémica. La expresividad clínica de la enfermedad fue variable.
Asunto(s)
Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Adulto Joven , Síndrome de DiGeorge/diagnóstico , Argentina , Fenotipo , Estudios Retrospectivos , Salud UrbanaRESUMEN
Uno de los síndromes más frecuentes asociados a fisura palatina es el síndrome Velocardiofacial. Sus características involucran aspectos faciales, cardiológicos, psicológicos, ligüísticos y de aprendizaje, que deben ser abordados por equipos multiprofesionales. Internacionalmente el estudio de este síndrome se ha hizo masificando en forma progresiva. En nuestro país son escasos los grupos que manejan e intervienen en esta población. En este contexto es que se hace necesaria una revisión bibliográfica actualizada, que resuma los hallazgos clínicos y algunos aspectos de manejo multiprofesional, desde una perspectiva fonoaudiológica.
Velo-cardio-facial syndrome (VCFS) is one of the most frecuently associated syndromes to cleft palate. It comprises facial, cardiological, psychological, and linguistic disorders as well as learning difficulties which all must be addressed by a multi-professional team. The study of this syndrome has been systematically carried out around the world. In Chile, however, there are only few health-related professionals who work with this patient population. The present article aims at providing an up-to-date review, from a speech pathology point of view, on the clinical finding and on some aspects involved in the clinical management of VCFS.