A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain-Reference-Cited by-同舟云学术

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain

Published:2015-04-09 Issue:6 Volume:3 Page:415-423
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Quintela Ines¹,Fernandez-Prieto Montse²,Gomez-Guerrero Lorena²,Resches Mariela³,Eiris Jesus⁴,Barros Francisco²,Carracedo Angel¹²⁵

Affiliation:

1. Grupo de Medicina Xenomica; Centro Nacional de Genotipado - Plataforma de Recursos Biomoleculares y Bioinformaticos - Instituto de Salud Carlos III (CeGen-PRB2-ISCIII); Universidade de Santiago de Compostela; Santiago de Compostela Spain

2. Grupo de Medicina Xenomica; CIBERER; Fundacion Publica Galega de Medicina Xenomica - SERGAS; Santiago de Compostela Spain

3. Departamento de Psicologia Evolutiva y de la Educacion; Universidade de Santiago de Compostela; Santiago de Compostela Spain

4. Unidad de Neurologia Pediatrica; Departamento de Pediatria; Hospital Clinico Universitario de Santiago de Compostela; Santiago de Compostela Spain

5. Center of Excellence in Genomic Medicine Research; King Abdulaziz University; Jeddah Saudi Arabia

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.255/fullpdf

Reference43 articles.

1. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature;Becker;Eur. J. Med. Genet.,2012

2. Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype;Lowry;Mol. Syndromol.,2013

3. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders;Pinto;Am. J. Hum. Genet.,2014

4. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14;Esch;J. Med. Genet.,2010

5. Interstitial deletions at 6q14.1-q15 associated with obesity, developmental delay and a distinct clinical phenotype;Wentzel;Mol. Syndromol.,2010

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1. Prenatal diagnosis of BACs‐on‐Beads assay in 1520 cases from Fujian Province, China;Molecular Genetics & Genomic Medicine;2020-08-07

2. Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33;Journal of Assisted Reproduction and Genetics;2019-01-24

3. The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports;European Journal of Human Genetics;2018-06-08

4. Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review;Molecular Syndromology;2017-11-29