Literature DB >> 21419731

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity].

A Sempere Pérez1, I Manchón Trives, I Palazón Azorín, L Alcaraz Más, E Pérez Lledó, F Galán Sánchez.   

Abstract

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.
Copyright © 2010 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

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Year:  2011        PMID： 21419731     DOI： 10.1016/j.anpedi.2011.01.033

Source DB:  PubMed          Journal:  An Pediatr (Barc)        ISSN： 1695-4033            Impact factor:   1.500


  4 in total

1.  Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

Authors:  Pauline Chaste; Stephan J Sanders; Kommu N Mohan; Lambertus Klei; Youeun Song; Michael T Murtha; Vanessa Hus; Jennifer K Lowe; A Jeremy Willsey; Daniel Moreno-De-Luca; Timothy W Yu; Eric Fombonne; Daniel Geschwind; Dorothy E Grice; David H Ledbetter; Catherine Lord; Shrikant M Mane; Donna M Martin; Eric M Morrow; Christopher A Walsh; James S Sutcliffe; Matthew W State; Christa Lese Martin; Bernie Devlin; Arthur L Beaudet; Edwin H Cook; Soo-Jeong Kim
Journal:  Autism Res       Date:  2014-05-12       Impact factor: 5.216

2.  Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

Authors:  Emiy Yokoyama-Rebollar; Adriana Ruiz-Herrera; Esther Lieberman-Hernández; Victoria Del Castillo-Ruiz; Silvia Sánchez-Sandoval; Silvia M Ávila-Flores; José Luis Castrillo
Journal:  Mol Cytogenet       Date:  2015-04-09       Impact factor: 2.009

3.  Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

Authors:  Kyle W Davis; Moises Serrano; Sara Loddo; Catherine Robinson; Viola Alesi; Bruno Dallapiccola; Antonio Novelli; Merlin G Butler
Journal:  Int J Mol Sci       Date:  2019-03-22       Impact factor: 5.923

4.  Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Diagnostics (Basel)       Date:  2021-04-19
  4 in total

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