Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. - Wikidata - wikimedia - TriplyDB

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

http://www.wikidata.org/entity/Q35679786

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 carrier Distal 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 report Mechanisms 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 Disability Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques

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P2860

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

http://www.wikidata.org/entity/Q35679786

description

2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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2011年论文

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Parental insertional balanced ...... with developmental anomalies.

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Parental insertional balanced ...... with developmental anomalies.

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Parental insertional balanced ...... with developmental anomalies.

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Parental insertional balanced ...... with developmental anomalies.

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Parental insertional balanced ...... with developmental anomalies.

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Parental insertional balanced ...... with developmental anomalies.

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P1433

European Journal of Human Genetics

P1476

Parental insertional balanced ...... with developmental anomalies.

@en

P2093

Andrew Green

http://www.w3.org/2001/XMLSchema#string

Anne-Marie van der Kevie-Kersemaekers

http://www.w3.org/2001/XMLSchema#string

Arie van Haeringen

http://www.w3.org/2001/XMLSchema#string

Beata A Nowakowska

http://www.w3.org/2001/XMLSchema#string

Bert B A de Vries

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Birgit Sikkema-Raddatz

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Claudia Al Ruivenkamp

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Hanneke Mieloo

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Jean-Pierre Fryns

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John A Crolla

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P2860

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

Diagnostic genome profiling in mental retardation.

Interchromosomal insertions. Identification of five cases and a review.

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

Intrachromosomal insertions: a case report and a review.

Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

A familial complex chromosome translocation resulting in duplication of 6p25.

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization.

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

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10.1038/EJHG.2011.157

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2

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20

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3260932

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