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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
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