Angelman Syndrome Due to Familial Translocation: Unexpected Additional Results Characterized by Microarray-based Comparative Genomic Hybridization

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2015 Apr 23

PMID 25901183

Authors

Emiy Yokoyama-Rebollar

Adriana Ruiz-Herrera

Esther Lieberman-Hernandez

Victoria Del Castillo-Ruiz

Silvia Sanchez-Sandoval

Silvia M Avila-Flores

Jose Luis Castrillo

Affiliations

Soon will be listed here.

Abstract

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.

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