[Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum]. / Revisión de 22 casos de deleción 22q11.2: espectro fenotípico.

INTRODUCTION: The 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with an incidence rate of 1/4,000-6,000 live births. The most specific clinical features are: congenital conotruncal heart diseases, palate anomalies, hypocalcaemia, immunity and learning problems, and a characteristic facial phenotype. The objective of this work is to review the presenting phenotype and clinical features of children with 22q11.2 deletion syndrome as a guide for early diagnosis. PATIENTS AND METHODS: Retrospective study of 22 patients with 22q11.2 deletion syndrome diagnosed at our hospital in the time period 2004-2007. Variables analyzed: incidence, sex, age at diagnosis, presenting phenotype, clinical features, positive family history, mortality and natural history. RESULTS: From a total of 22 patients, 63 % were males, and the median age at diagnosis was of 4.5 years. Presenting pheno-type: congenital heart disease, milestones delay, velopharyngeal incompetence, hypocalcaemia, and mental retardation/psychiatric disturbances. CLINICAL FEATURES: congenital heart disease (84 %), velopharyngeal incompetence (47 %), milestones delay and learning disabilities (79 %). All of the deletions were de novo, except in one case where the deletion was present as mosaicism in the father. Three patients died, due to congenital heart disease. CONCLUSIONS: Clinical expression is widely variable, although a characteristic phenotype exists. Patients with heart disease are diagnosed earlier than other patients with unusual presenting phenotype such as congenital dysphagia. It is important to recognize less common phenotypes at early ages in order to provide multidisciplinary monitoring and accurate genetic counselling.

Revisión de 22 casos de deleción 22q11.2: espectro fenotípico / Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum

Introducción: El síndrome de deleción 22q11.2 es un síndrome de genes contiguos con una incidencia de un caso por cada 4.000-6.000 recién nacidos. Posee una amplia variabilidad clínica y sus características clínicas más frecuentes son cardiopatía conotruncal, anomalías palatinas, hipocalcemia, problemas de inmunidad y de aprendizaje, y un fenotipo facial característico. El objetivo de este estudio es revisar las formas de presentación y las manifestaciones clínicas de los niños con deleción 22q11.2 como guía para su diagnóstico precoz. Pacientes y métodos: Estudio retrospectivo de 22 casos de deleción 22q11.2 diagnosticados en nuestro hospital entre los años 2004 y 2007, en que se analizan las siguientes variables: incidencia, sexo, edad en el momento del diagnóstico, forma de presentación, características clínicas, antecedentes familiares, mortalidad y evolución. Resultados: De los 22 pacientes, el 63 % fueron varones y la edad media en el momento de realizar el diagnóstico fue de 4,5 años. Las formas de presentación fueron cardiopatía, retraso psicomotor, insuficiencia velopalatina, hipocalcemia y retraso mental o alteraciones psiquiátricas. Las principales manifestaciones clínicas fueron cardiopatía (84 %), insuficiencia velopalatina (47 %), retraso psicomotor y problemas de aprendizaje (79 %). Todos los casos fueron deleciones de novo, salvo un caso en el que se identificó la deleción "en mosaico" en el padre. Fallecieron 3 pacientes a causa de cardiopatía. Conclusiones: La expresión clínica es muy variable, aunque existe un fenotipo característico. Los niños con cardiopatía conotruncal son diagnosticados más tempranamente, pero en otras formas de presentación, como la disfagia congénita, el diagnóstico se retrasa más. Es necesario tener en cuenta las formas de presentación menos habituales para identificar en edades tempranas a estos pacientes y proporcionarles una atención multidisciplinaria temprana y un asesoramiento genético familiar adecuado (AU)

Introduction: The 22q11.2 deletion syndrome is a contiguous gene deletion syndrome with an incidence rate of 1/4,000-6,000 live births. The most specific clinical features are: congenital conotruncal heart diseases, palate anomalies, hypocalcaemia, immunity and learning problems, and a characteristic facial phenotype. The objective of this work is to review the presenting phenotype and clinical features of children with 22q11.2 deletion syndrome as a guide for early diagnosis. Patients and methods: Retrospective study of 22 patients with 22q11.2 deletion syndrome diagnosed at our hospital in the time period 2004-2007. Variables analyzed: incidence, sex, age at diagnosis, presenting phenotype, clinical features, positive family history, mortality and natural history. Results: From a total of 22 patients, 63 % were males, and the median age at diagnosis was of 4.5 years. Presenting pheno-type: congenital heart disease, milestones delay, velopharyngeal incompetence, hypocalcaemia, and mental retardation/psychiatric disturbances. Clinical features: congenital heart disease (84 %), velopharyngeal incompetence (47 %), milestones delay and learning disabilities (79 %). All of the deletions were de novo, except in one case where the deletion was present as mosaicism in the father. Three patients died, due to congenital heart disease. Conclusions: Clinical expression is widely variable, although a characteristic phenotype exists. Patients with heart disease are diagnosed earlier than other patients with unusual presenting phenotype such as congenital dysphagia. It is important to recognize less common phenotypes at early ages in order to provide multidisciplinary monitoring and accurate genetic counseling (AU)