Browse
Submit Data
Databases
API
Help

Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities

ABSTRACT: This study includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in children with ID/DD, ASD and MCA. We identified a broad range of pathogenic/likely pathogenic CNVs as well as variants of unclear significance and likely benign variants. Our results confirm the benefit of array-CGH in the current clinical genetic diagnostics through the identification of genetic cause of ID/DD in the high proportion of affected children.

ORGANISM(S): Homo sapiens

SUBMITTER: Marketa Wayhelova

PROVIDER: E-MTAB-8044 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

ACCESS DATA

Json Xml

Similar Datasets

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 4

Project description:This study includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in children with ID/DD, ASD and MCA. We identified a broad range of pathogenic/likely pathogenic CNVs as well as variants of unclear significance and likely benign variants. Our results confirm the benefit of array-CGH in the current clinical genetic diagnostics through the identification of genetic cause of ID/DD in the high proportion of affected children.

2019-04-30 | E-MTAB-6735 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 5

2019-04-30 | E-MTAB-6734 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities

2019-08-31 | E-MTAB-7696 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 3

2019-04-30 | E-MTAB-6731 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 2

2019-04-30 | E-MTAB-6733 | biostudies-arrayexpress

Array-CGH in children with intellectual disabilities, developmental delays, autism spectrum disorders and multiple congenital abnormalities, dataset 1

2019-04-30 | E-MTAB-6685 | biostudies-arrayexpress

Array-CGH in a boy with an occurrence of neurodevelopmental disorders and epilepsy

Project description:This analysis includes the whole-genome screening of unbalanced chromosomal rearrangements (copy-number variants; CNV) in a boy with neurodevelopmental disorders and epilepsy.

2020-01-31 | E-MTAB-8147 | biostudies-arrayexpress

Comparative genome hybridisation by array to investigate a novel frameshift variant in the ASXL3 gene in a patient with phenotypic features of Bainbridge-Ropers syndrome

Project description:We performed array-CGH and targeted massive parallel sequencing using the commercial gene panel design ClearSeq Inherited Disease (Agilent Technologies) to identify the pathogenic sequence variants in a girl presenting an apparent microcephaly with mild dysmorphic facial features, delayed psychomotoric development and central hypotonia.

2019-04-15 | E-MTAB-7027 | biostudies-arrayexpress

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Project description:Retrospective investigation of genetic background of rapid progression of multiple myeloma into extramedullary relapse. Array-CGH showed chromothripsis in chromosome 18, hyperdiploidy, structural copy-number alterations. Utilization of novel NGS leukemia-related gene custom panel revealed patholological mutation in NRAS (c.181C>A; p.Gln61Lys) or variants of unknown significance in TP53, CUX1 and POU4F1.

2017-10-31 | E-MTAB-6033 | biostudies-arrayexpress

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder - implications of a copy number variation involving dpp10 (Perkin Elmer CGX)

Project description:Background Array-Comparative-Genomic-Hybridization (aCGH) is recommended as first-tier genetic test for children with autism spectrum disorder (ASD). However, result interpretation can be challenging as copy number variants (CNVs) in non-European ASD patients is not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. Methods DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. Results Ten pathogenic and one likely-pathogenic CNVs were found in nine patients, with an overall diagnostic yield of 3.5%. A 138kb duplication involving 3â exons of DPP10 (hg[19]chr2:116534689-116672358), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of unknown significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified amongst our ancestry-matched control with frequency of 6/653 (0.92%) as well as from literature and genomic databases. Conclusions DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings.

2017-04-07 | E-MTAB-5672 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data