[22q11 deletion syndrome: an expanding phenotype]. / Síndrome de deleción 22q11: un fenotipo en expansión.

INTRODUCTION: Chromosome 22q11 deletion syndrome is a syndromic complex which includes several manifestations such as cardiac defects, immunodeficiency, cleft palate and facial dysmorphic features. It is also associated with developmental delay and other neuropsychiatric symptoms. Epilepsy is an uncommon manifestation. CASE REPORT: A 15 year old female patient with a history of developmental delay and learning difficulties. She began with generalized and partial complex epileptic seizures of unknown etiology in the absence of other known risk factors for seizures. Brain magnetic resonance imaging and electroencephalographic recording were normal. Neuropsychiatric history, phenotype with nasal voice and dysmorphic features justified the study of the 22q11 deletion that was diagnostic. CONCLUSIONS: 22q11 deletion is one of the most common microdeletion chromosomal syndromes. In recent years more atypical cases are being diagnosed due to a better knowledge of the syndrome and the availability of the fluorescence in situ hybridization test. These cases are conferring a wider phenotypical spectrum to the syndrome.Therefore, increasing awareness of the expression of this syndrome by different specialists is essential. Clinical features such as facial dysmorphism or nasal speech in atypical cases are important diagnostic clues.

Síndrome de deleción 22q11: un fenotipo en expansión / 22q11 deletion syndrome: an expanding phenotype

Introducción. El síndrome de deleción 22q11 es un complejo sindrómicoque incluye muy diversas manifestaciones, entre las que destacanmalformaciones cardíacas, inmunodeficiencia, hipocalcemia,fisura palatina y dismorfia facial. Se suele asociar también a retrasoen el desarrollo y otros síntomas neuropsiquiátricos, pero es muyinfrecuente la presentación con epilepsia como manifestación predominante.Caso clínico. Paciente mujer de 15 años con antecedentes deretraso en el desarrollo y dificultades de aprendizaje con retraso escolarque comenzó con crisis epilépticas generalizadas y parciales complejassin etiología ni factores predisponentes conocidos. La resonanciamagnética craneal y el electroencefalograma de vigilia fueronnormales. Los antecedentes neuropsiquiátricos y el fenotipo con voznasal y rasgos dismórficos faciales leves llevaron a solicitar el estudiode la deleción 22q11, que fue diagnóstico.Conclusiones. La deleción 22q11 es uno de los síndromes cromosómicosmás frecuentes. En los últimos años, gracias su mejorconocimiento y a la disponibilidad de la técnica de hibridación insitu con fluorescencia, se están diagnosticando un mayor número decasos atípicos que están ampliando el espectro fenotípico. Es importanteel conocimiento de sus manifestaciones por diferentes especialistas,ya que en casos atípicos algunas manifestaciones como lavoz nasal o los rasgos dismórficos faciales pueden dar la clave diagnóstica (AU)

Introduction. Chromosome 22q11 deletion syndrome is asyndromic complex which includes several manifestations suchas cardiac defects, immunodeficiency, cleft palate and facialdysmorphic features. It is also associated with developmentaldelay and other neuropsychiatric symptoms. Epilepsy is anuncommon manifestation.Case report. A 15 year old female patient with a history ofdevelopmental delay and learning difficulties. She began withgeneralized and partial complex epileptic seizures of unknownetiology in the absence of other known risk factors for seizures.Brain magnetic resonance imaging and electroencephalographicrecording were normal. Neuropsychiatric history, phenotype withnasal voice and dysmorphic features justified the study of the22q11 deletion that was diagnostic.Conclusions. 22q11 deletion is one of the most commonmicrodeletion chromosomal syndromes. In recent years more atypicalcases are being diagnosed due to a better knowledge of thesyndrome and the availability of the fluorescence in situ hybridizationtest. These cases are conferring a wider phenotypical spectrumto the syndrome. Therefore, increasing awareness of theexpression of this syndrome by different specialists is essential.Clinical features such as facial dysmorphism or nasal speech inatypical cases are important diagnostic clues (AU)

Criterios de diagnóstico genético en casos de retraso mental y del desarrollo de origen idiopático / Genetic diagnostic criteria in cases of mental retardation and development of idiopathic origin

Diversos estudios estiman que el retraso mental afecta a un 1-3 % de la población, y en cerca de un 50 % de los casos se desconoce la etiología. La incertidumbre sobre la etiología, y la recurrencia, hacen que la prevención del retraso mental presente graves repercusiones de tipo terapéutico, social e incluso económicas. La clave principal es lograr un diagnóstico preciso, probando una hipótesis clínica mediante la realización de las pruebas genéticas adecuadas. Debido al creciente desarrollo de la tecnología en el campo de la genética, y a la disponibilidad de nuevas pruebas, en este artículo se revisan e integran los criterios establecidos en las guías consensuadas de diferentes sociedades científicas (pediátricas, neurológicas y genéticas) respecto a su utilización en el diagnóstico del retraso mental y del retraso del desarrollo (AU)

Different studies show that mental retardation affects 1-3 % of the population, and in about 50 % of the cases the aetiology is unknown. The uncertainty on the aetiology, and recurrence, means that prevention of mental retardation can have serious, therapeutic, social, and even economic repercussions. The key is to obtain an accurate diagnosis, proving a clinical hypothesis by the accomplishment of the most suitable genetic tests. Due to the increasing development of the technology in the field of the genetics, and the availability of new tests, this article reviews the criteria established in the practice guidelines from different scientific societies (paediatric, neurological and genetic) with respect to their use in diagnosis and integrates them from the point of view of their use in mental retardation and developmental delay (AU)

[Genetic diagnostic criteria in cases of mental retardation and development of idiopathic origin]. / Criterios de diagnóstico genético en casos de retraso mental y del desarrollo de origen idiopático.

Different studies show that mental retardation affects 1-3% of the population, and in about 50 % of the cases the aetiology is unknown. The uncertainty on the aetiology, and recurrence, means that prevention of mental retardation can have serious, therapeutic, social, and even economic repercussions. The key is to obtain an accurate diagnosis, proving a clinical hypothesis by the accomplishment of the most suitable genetic tests. Due to the increasing development of the technology in the field of the genetics, and the availability of new tests, this article reviews the criteria established in the practice guidelines from different scientific societies (paediatric, neurological and genetic) with respect to their use in diagnosis and integrates them from the point of view of their use in mental retardation and developmental delay.