8q11.1-q11.21CNV Type: Duplication
Largest CNV size: 672913 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Duplications within this region were found in two cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
2618000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
672913
0
2
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
599000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_13a_ASD_discovery_cases-13876.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
46949213
49524888
2575676
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004771
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46544663
47217575
672913
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005334
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46709224
47276395
567172
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown207
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB), CNV reported as 8q11.21 in original report
47037074
47634611
597538
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13a_ASD_discovery_cases-13876.p1
Unknown
Simplex
Unknown
RN7SKP32,RNU6-819P,RPL10AP2,NDUFA5P12,ATP6V1G1P2,IGLV8OR8-1,RNU6-665P,CEBPD,RNU6-519P,RNU6-295P,RNA5SP531,RPL29P19,LINC02599,SNAI2,RN7SKP294,RFPL4AP7,MAPK6P4,UBE2V2,EFCAB1,PPDPFL,SPIDR,PRKDC,MCM4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004771
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
HSPA8P13,ASNSP4,MTND2P38,MTND1P7,RNU6-656P,MTCYBP20,MTND6P20,RN7SKP32,RNU6-819P,RPL10AP2,NDUFA5P12,ATP6V1G1P2,IGLV8OR8-1,ASNSP1,LINC00293,MAPK6P4,TRIM60P15
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005334
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTND2P38,MTND1P7,RNU6-656P,MTCYBP20,MTND6P20,RN7SKP32,RNU6-819P,RPL10AP2,NDUFA5P12,ATP6V1G1P2,IGLV8OR8-1,LINC00293,MAPK6P4,TRIM60P15,SPIDR
maini_18_ASD/DD/ID_discovery_cases-case_unknown207
Maternal
Unknown
Unknown
RN7SKP32,RNU6-819P,RPL10AP2,NDUFA5P12,ATP6V1G1P2,IGLV8OR8-1,SPIDR
Controls
No Control Data Available
No Animal Model Data Available