Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
about
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrierDistal 10q trisomy with copy number gain in chromosome region 10q23.1-10q25.1: the Wnt signaling pathway is the most pertinent to the gene content in the region of copy number gain: a case reportMechanisms for Complex Chromosomal Insertions.Aniridia.Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.Association between IRS1 Gene Polymorphism and Autism Spectrum Disorder: A Pilot Case-Control Study in Korean Males.Pathogenic or not? Assessing the clinical relevance of copy number variants.How to use… microarray comparative genomic hybridisation to investigate developmental disorders.Human Structural Variation: Mechanisms of Chromosome Rearrangements.Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.Large genomic insertion at the Shh locus results in hammer toes through enhancer adoption.Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual DisabilityPure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndromeDuplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short statureFamiliar unbalanced complex rearrangements involving 13 p-arm: description of two casesDiagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques
P2860
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P2860
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Parental insertional balanced ...... with developmental anomalies.
@ast
Parental insertional balanced ...... with developmental anomalies.
@en
type
label
Parental insertional balanced ...... with developmental anomalies.
@ast
Parental insertional balanced ...... with developmental anomalies.
@en
prefLabel
Parental insertional balanced ...... with developmental anomalies.
@ast
Parental insertional balanced ...... with developmental anomalies.
@en
P2093
P2860
P356
P1476
Parental insertional balanced ...... with developmental anomalies.
@en
P2093
Andrew Green
Anne-Marie van der Kevie-Kersemaekers
Arie van Haeringen
Beata A Nowakowska
Bert B A de Vries
Birgit Sikkema-Raddatz
Claudia Al Ruivenkamp
Hanneke Mieloo
Jean-Pierre Fryns
John A Crolla
P2860
P2888
P304
P356
10.1038/EJHG.2011.157
P577
2011-09-14T00:00:00Z