Síndrome de Phelan-McDermid: un caso clínico con una deleción de 1, 7 Mb en 22q13.3 / Phelan-McDermid syndrome: a case with a 1.7 Mb deletion in 22q13.3

Introducción: El síndrome de Phelan-McDermid está producido por una microdeleción en la región 22q13.3. Esta microdeleción se ve asociada a una gran variabilidad fenotípica, y recientemente se ha sugerido una correlación entre el tamaño de la deleción y la gravedad de la sintomatología. Caso clínico: En el presente trabajo describimos el caso clínico de un niño atendido en nuestro hospital con un importante retraso en el área del lenguaje y el aprendizaje, en el que se realizó un análisis genético mediante MLPA (multiplex ligation-dependent probe amplification) y microarray. Resultados: Se detectó en el paciente una deleción terminal de 1,7 Mb en el cromosoma 22 con una pérdida de los genes ARSA-1, SHANK3 y RABL2B. Conclusión: El análisis de las microdeleciones en el cromosoma 22q13.3 mediante la técnica de microarray permite determinar qué genes están afectados en los casos de síndrome de Phelan-McDermid, y establecer una mejor correlación genotipo-fenotipo para predecir la evolución de cada paciente de una forma más precisa (AU)

Introduction: Phelan-McDermid syndrome is caused by a microdeletion in the 22q13.3 region that has been related to high phenotypic variability. Recently, it has been suggested a correlation between the size of the deletion and the severity of the symptoms presented by patients. Case report: We report the case of a child treated at our Hospital with a significant delay in the area of language and learning, and the results of the genetic analysis performed using multiplex ligation-dependent probe amplification (MLPA) and microarray techniques. Results: A 1.7 Mb terminal deletion was detected on chromosome 22 with a loss of ARSA-1, SHANK3 and RABL2B genes. Conclusion: Microdeletion analysis of 22q13.3 region should be performed by microarray technique in order to detect which genes are involved in Phelan-McDermid syndrome, finding a better phenotype-genotype correlation that will allow predicting patient’s prognosis more accurately (AU)

Genetic alterations in children and adolescents with acute myeloid leukaemia

Acute Myeloid Leukemia is a clinically and genetically heterogeneous disease, in which cytogenetic aberrations are the most important factors to determine biological behavior and prognosis. More than 20 different chromosomal abnormalities have been identified in a high percentage of children (70-85%) with the novo AML. We reviewed the most frequently found and the impact of these aberrations on prognosis. Differences according to the age of patients and mainly in relation to adult population have been enhanced, although the low incidence of AML in children and the high number of abnormalities make difficult to accurately define the prognosis significance of these aberrations (AU)