2q12.2-q13CNV Type: Duplication
Largest CNV size: 3659024 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication within this region was found in a case 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
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
3659024
0
1
1
riley_15_ASD/DD/ID/ADHD_cases
14 new subjects and 14 subjects from previously published reports with 2q11.2 or 2q13 CNVs
28
Cases exhibit variable phenotypic features, including developmental delay/intellectual disability, ASD, ADHD, speech delay, congenital heart defects (CHD), hypotonia, and/or dysmorphic features, among others
Range, 2 mos.-17 yrs.
19 male, 7 female, 2 N/A
3330000
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
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
riley_15_ASD/DD/ID/ADHD_cases
11 Caucasian, 4 African-American, 2 Hispanic, 1 Caucasian/Hispanic, 1 Indian, 9 N/A
aCGH, array SNP, solid phase hybridization
EmArray oligonucleotide array, Affymetrix CytoScan HD, Illumina CytoSNP-850K BeadChip, 180k CMA-HR
FISH
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004903
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
106696282
110223328
3527047
GRCh38
Duplication
Yes
riley_15_ASD/DD/ID/ADHD_cases-subject14
N/A
N/A
Developmental delay
Developmental delay, hypotonia, dysmorphic features. Father reportedly healthy but did not finish high school for unspecified reasons.
106516474
109707730
3191257
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004903
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
EEF1A1P12,PPP1R2P5,RPL22P8,ACTP1,SETD6P1,WASF1P1,SULT1C2P2,GMCL1P2,SMIM12P1,LIMS1-AS1,RPL10P5,SH3RF3-AS1,MIR4265,SNRPGP9,MIR4266,SOWAHC,BMS1P19,RPL22P11,GPAA1P1,ZBTB45P1,LINC01123,MIR4267,MIR4436B1,LINC01886,GACAT1,RGPD4-AS1,LINC01593,LINC01594,SULT1C3,SULT1C2,SULT1C2P1,SULT1C4,GCC2,RANBP2,LIMS3,LIMS3-LOC440895,NPHP1,ST6GAL2,ST6GAL2-IT1,LINC01789,LINC01885,RGPD4,GCC2-AS1,LIMS1,CCDC138,EDAR,SH3RF3,SEPT10,RGPD5,MTLN,SLC5A7,MALL
riley_15_ASD/DD/ID/ADHD_cases-subject14
FISH
Paternal
Unknown
Unknown
EEF1A1P12,PPP1R2P5,RPL22P8,ACTP1,SETD6P1,WASF1P1,SULT1C2P2,GMCL1P2,SMIM12P1,LIMS1-AS1,RPL10P5,SH3RF3-AS1,MIR4265,SNRPGP9,MIR4266,SOWAHC,BMS1P19,CD8B2,LINC01886,GACAT1,RGPD4-AS1,LINC01593,LINC01594,SULT1C3,SULT1C2,SULT1C2P1,SULT1C4,GCC2,RANBP2,ST6GAL2,ST6GAL2-IT1,LINC01789,LINC01885,RGPD4,GCC2-AS1,LIMS1,CCDC138,EDAR,SH3RF3,SEPT10,SLC5A7
Controls
No Control Data Available
No Animal Model Data Available