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Título :	Angelman Syndrome due to familial translocation: Unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization
Creador:	Yokoyama Rebollar, Emiy
Nivel de acceso:	Open access
Palabras clave :	Síndrome de Angelman - diagnóstico Síndrome de Angelman - genética Translocación Genética - genética Análisis por Micromatrices - métodos Hibridación Genómica Comparativa - métodos Técnicas Genéticas Angelman Syndrome - diagnóstico Angelman Syndrome - genética Translocation, Genetic - genética Microarray Analysis - methods Comparative Genomic Hybridization - methods Genetic Techniques 15q11.2 Síndrome de Angelman Translocación Array CGH 15q11.2 Angelman Syndrome Translocation array CGH
Descripción :	Background: The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation. Results: A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia. G-banding chromosome analysis established the diagnosis of Angelman Syndrome resulting from a familial translocation t(10;15) involving the 15q11.2 region. The available family members were studied using banding and molecular cytogenetic techniques, including Microarray-based Comparative Genomic Hybridization, which revealed additional unexpected results: a coincidental and smaller 15q deletion, asymptomatic duplications in 15q11.2 and Xp22.31 regions. Conclusions: This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone. Our report also expands two molecularly characterized rare patient cohorts: Angelman Syndrome patients due to familial translocations and patients with 15q11.2 duplications of paternal origin. © 2015 Yokoyama-Rebollar et al.; licensee BioMed Central.
Colaborador(es) u otros Autores:	Ruiz-Herrera A Lieberman-Hernández E Del Castillo-Ruiz V Sánchez-Sandoval S Ávila-Flores Sm Castrillo JL
Fecha de publicación :	2015
Tipo de publicación:	Artículo
Formato:	pdf
Identificador del Recurso :	10.1186/s13039-015-0127-6
Fuente:	Molecular Cytogenetics 8(1):27
URI :	http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/1548
Idioma:	eng
Aparece en las colecciones:	Artículos

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