Clinical findings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina.

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.

Clinical fndings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina / Hallazgos clínicos en 32 pacientes con microdeleción 22q11.2 asistidos en la ciudad de Córdoba, Argentina

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.(AU)

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.(AU)

Clinical fndings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina / Hallazgos clínicos en 32 pacientes con microdeleción 22q11.2 asistidos en la ciudad de Córdoba, Argentina

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.

Clinical findings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina. / Clinical findings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina.

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.

A simple allele-specific polymerase chain reaction method to detect the Gly143Glu polymorphism in the human carboxylesterase 1 gene: importance of genotyping for pharmacogenetic treatment.

Human carboxylesterases 1 and 2 (CES1 and CES2) catalyze the hydrolysis of many exogenous compounds. Alterations in CES sequences could lead to variability in both the inactivation of drugs and the activation of prodrugs. The human CES1 gene encodes for the enzyme carboxylesterase 1, a serine esterase governing both metabolic deactivation and activation of numerous therapeutic agents. Some of theses drugs are the antiviral oseltamivir used to treat some types of influenza infections and the methylphenidate employed in the treatment of patients with attention deficit. The Gly143Glu polymorphism in CES1 gene has been shown to reduce enzyme activity. The aim of the present study was to develop an easy and cheap method to detect this polymorphism. For this, we studied a group of people from Córdoba, a Mediterranean area from Argentina. Our results show that our methodology could detect the presence of this polymorphism with a frequency around 1.8%, only in the heterozygote form. These results could be relevant to patients before the treatment with some drugs where the CES1 enzyme is involved.