Cargando…

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

BACKGROUND: Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been investigated. As the balanced chromosomal abnormalities commonly lead to the recur...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rafati, Maryam, Seyyedaboutorabi, Elaheh, Ghadirzadeh, Mohammad R, Heshmati, Yaser, Adibi, Homeira, Keihanidoust, Zarrintaj, Eshraghian, Mohammad R, Javadi, Gholam Reza, Dastan, Jila, Mosavi-Jarrahi, Alireza, Hoseini, Azadeh, Purhoseini, Marzieh, Ghaffari, Saeed R
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284449/ https://www.ncbi.nlm.nih.gov/pubmed/22283845 http://dx.doi.org/10.1186/1755-8166-5-9

Ejemplares similares

"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements
por: Rafati, Maryam, et al.
Publicado: (2012)

New microdeletion and microduplication syndromes: A comprehensive review
por: Nevado, Julián, et al.
Publicado: (2014)

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
por: Tai, Derek J. C., et al.
Publicado: (2016)

A comprehensive list of human microdeletion and microduplication syndromes
por: Wetzel, Alyssa S., et al.
Publicado: (2022)

Microdeletions and microduplications linked to severe congenital disorders in infertile men
por: Kikas, Triin, et al.
Publicado: (2023)

Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes
por: Pei, Yuanyuan, et al.
Publicado: (2020)

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
por: Ballif, Blake C, et al.
Publicado: (2008)

Simple, Rapid and Inexpensive Quantitative Fluorescent PCR Method for Detection of Microdeletion and Microduplication Syndromes
por: Stofanko, Martin, et al.
Publicado: (2013)

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
por: Blazejewski, Sara M., et al.
Publicado: (2018)

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies
por: Mohammadzadeh, Akbar, et al.
Publicado: (2019)

12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?
por: Dória, Sofia, et al.
Publicado: (2020)

Microdeletion and Microduplication Analysis of Chinese Conotruncal Defects Patients with Targeted Array Comparative Genomic Hybridization
por: Gong, Xiaohui, et al.
Publicado: (2013)

Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications
por: Lindgren, Valerie, et al.
Publicado: (2015)

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication
por: Wang, Hong‐Dan, et al.
Publicado: (2017)

Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
por: Wan, Shanning, et al.
Publicado: (2019)

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21.1 microdeletions and microduplications
por: Yue, Fagui, et al.
Publicado: (2023)

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition
por: Arbogast, Thomas, et al.
Publicado: (2017)

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology
por: Leite, Ana Julia Cunha, et al.
Publicado: (2016)

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies
por: Hu, Hua, et al.
Publicado: (2019)

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
por: Huang, Xiuzhu, et al.
Publicado: (2021)

Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
por: Tian, Weifang, et al.
Publicado: (2023)

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
por: Rosenfeld, Jill A., et al.
Publicado: (2009)

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
por: Hu, Jie, et al.
Publicado: (2017)

Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
por: Kaissi, Ali Al, et al.
Publicado: (2015)

Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies
por: Xue, Huili, et al.
Publicado: (2022)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
por: Guo, Nan, et al.
Publicado: (2023)

Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population
por: Nasiri, Habib, et al.
Publicado: (2011)

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
por: Mc Cormack, Adrian, et al.
Publicado: (2014)

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring
por: Capra, Valeria, et al.
Publicado: (2013)

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome
por: Li, Shuyuan, et al.
Publicado: (2019)

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features
por: Chen, Yibo, et al.
Publicado: (2019)

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
por: Cai, Meiying, et al.
Publicado: (2022)

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
por: Kashevarova, Anna A, et al.
Publicado: (2014)

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
por: León, Luis E., et al.
Publicado: (2017)

Multiplex PCR Screening of Y-chromosome microdeletions in azoospermic ICSI candidate men
por: Sheikhha, Mohammad Hasan, et al.
Publicado: (2013)

The Association between Y Chromosome Microdeletion and Recurrent Pregnancy Loss
por: Ghorbian, S, et al.
Publicado: (2012)

Estimating the incidence of lung cancer attributable to occupational exposure in Iran
por: Mosavi-Jarrahi, Alireza, et al.
Publicado: (2009)

A novel case of global developmental delay syndrome with microdeletion at 10p14–p15.3 and microduplication at 18p11.31–p11.32
por: Zhang, Danyan, et al.
Publicado: (2019)

A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes
por: Kessi, Miriam, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_72oucpq1hj0k25dd5cah27qe01