Cargando…

A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder

Autism spectrum disorders are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5% to 10% of the patients with autism spectrum disorders. In this study, the authors present the clinical and array-based comparative genomic hybridiz...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dong, Ping, Xu, Qiong, An, Yu, Zhou, Bing-Rui, Lu, Ping, Liu, Ren-Chao, Xu, Xiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851130/ https://www.ncbi.nlm.nih.gov/pubmed/35187197 http://dx.doi.org/10.1177/2329048X15580673

Ejemplares similares

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype
por: Weisfeld-Adams, James D, et al.
Publicado: (2016)

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype
por: Weisfeld-Adams, James D, et al.
Publicado: (2017)

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects
por: Iourov, Ivan Y., et al.
Publicado: (2018)

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
por: Gug, Cristina, et al.
Publicado: (2020)

NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
por: Hu, Chun-Chun, et al.
Publicado: (2018)

De Novo 1q21.3q22 Duplication Revaluation in a “Cold” Complex Neuropsychiatric Case with Syndromic Intellectual Disability
por: Milone, Roberta, et al.
Publicado: (2021)

On the Wegener granulomatosis associated region on chromosome 6p21.3
por: Szyld, Paweł, et al.
Publicado: (2006)

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
por: Restaldi, Fabrizia, et al.
Publicado: (2019)

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications
por: Drabova, Jana, et al.
Publicado: (2014)

Association studies between chromosomal regions 1q21.3, 5q21.3, 14q21.2 and 17q21.31 and numbers of children in Poland
por: Clark, Jeremy S. C., et al.
Publicado: (2022)

A 1.1 Mb duplication CNV on chromosome 17 contributes to skeletal muscle development in Boer goats
por: Yuan, Ying, et al.
Publicado: (2023)

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3
por: Chishti, Muhammad Salman, et al.
Publicado: (2009)

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
por: Su, Meng, et al.
Publicado: (2018)

Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report
por: Chen, Shuang, et al.
Publicado: (2020)

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
por: Chen, Jun-Kun, et al.
Publicado: (2018)

Localization of an hTERT repressor region on human chromosome 3p21.3 using chromosome engineering
por: Abe, Satoshi, et al.
Publicado: (2010)

A 4 Mb High Resolution BAC Contig on Bovine Chromosome 1q12 and Comparative Analysis With Human Chromosome 21q22
por: Drögemüller, Cord, et al.
Publicado: (2005)

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
por: Dai, Jincheng, et al.
Publicado: (2022)

Human artificial chromosome carrying 3p21.3-p22.2 region suppresses hTERT transcription in oral cancer cells
por: Ohira, Takahito, et al.
Publicado: (2023)

Association of chromosome 5q21.3 polymorphisms with the exploratory eye movement dysfunction in schizophrenia
por: Ma, Yuanlin, et al.
Publicado: (2015)

Human chromosome 3p21.3 carries TERT transcriptional regulators in pancreatic cancer
por: Yagyu, Takuki, et al.
Publicado: (2021)

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening
por: Wenger, Tara L., et al.
Publicado: (2016)

An 8.22 Mb Assembly and Annotation of the Alpaca (Vicugna pacos) Y Chromosome
por: Jevit, Matthew J., et al.
Publicado: (2021)

The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3
por: Ke, Xiaoan, et al.
Publicado: (2023)

Chromosome 9p21.3 is Associated with Early-Onset Coronary Heart Disease in the Irish Population
por: Meng, Weihua, et al.
Publicado: (2008)

Motor impairments in Chinese toddlers with autism spectrum disorder and its relationship with social communicative skills
por: Zhou, Bingrui, et al.
Publicado: (2022)

A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization
por: Qi, Qingwei, et al.
Publicado: (2013)

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening
por: Wenger, Tara L., et al.
Publicado: (2016)

MBRS-22. SIGNIFICANCE OF RNF213 IN TUMORGENICITY OF MEDULLOBLASTOMA
por: Mineharu, Yohei, et al.
Publicado: (2020)

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum
por: Lall, Meena, et al.
Publicado: (2011)

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3
por: Jiang, Huling, et al.
Publicado: (2021)

Analysis of the 9p21.3 sequence associated with coronary artery disease reveals a tendency for duplication in a CAD patient
por: Kouprina, Natalay, et al.
Publicado: (2018)

An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
por: Yoon, Jihoon G., et al.
Publicado: (2016)

Deletions at the chromosome 3 common eliminated region 1 on 3p21.3 in human breast tumors
por: Petursdottir, ThE, et al.
Publicado: (2005)

MACHETE identifies interferon-encompassing chromosome 9p21.3 deletions as mediators of immune evasion and metastasis
por: Barriga, Francisco M., et al.
Publicado: (2022)

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication
por: Sedghi, Maryam, et al.
Publicado: (2015)

A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability
por: Pang, Xiuhong, et al.
Publicado: (2015)

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections
por: Xu, Xiu, et al.
Publicado: (2012)

Case report: One child with an autism spectrum disorder who had chronically elevated serum levels of CK and CK-MB
por: Rong, Ping, et al.
Publicado: (2022)

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance
por: Woodward, Karen J., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_qg480pn3hderskio6pkn3fki8b