22q12.1-q12.3CNV Type: Duplication
Largest CNV size: 7012667 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
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
alhazmi_22_ASD_discovery_cases
Saudi ASD probands with copy number variation in chromosome 22.
15
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Range, 3-12 yrs.
80.0% Male
6051973
1
0
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
7012667
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
alhazmi_22_ASD_discovery_cases
Saudi Arabia
aCGH
Agilent
ADM-2
Agilent Feature Extraction, Agilent Cytogenomics
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
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
alhazmi_22_ASD_discovery_cases-case5
NA
F
ASD
Case diagnosed with ASD based on DSM-5.
26793810
32845782
6051973
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000067
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
26979579
33992220
7012642
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
alhazmi_22_ASD_discovery_cases-case5
Unknown
AP1B1,EWSR1,INPP5J,RTCB,UQCR10,MTFP1,PLA2G3,TUG1,LINC01521,ZMAT5,EIF4ENIF1,KREMEN1,ZNRF3,IGLVIVOR22-2,ASCC2,IGLCOR22-1,IGLCOR22-2,TBC1D10A,RNF185,LIF-AS2,PIK3IP1,CPSF1P1,EMID1,HSCB,SELENOM,CCDC117,DUSP18,MORC2-AS1,HORMAD2,C22orf42,CABP7,RNF215,PRR14L,BPIFC,SEC14L3,SEC14L4,TTC28-AS1,SLC35E4,SDC4P,CCDC157,CNN2P1,CASTOR1,SEC14L6,SNORD125,RFPL4AP6,NF2,LIMK2,NEFH,MN1,LIF,OSM,DRG1,RPS3AP51,RPEP4,EIF4HP2,MIR3200,H2AZP6,MIR3199-1,MIR3199-2,MIR3928,LINC02554,RNF185-AS1,RNA5SP496,ZNRF3-IT1,RNU6-28P,ZNRF3-AS1,RNA5SP497,RFPL1,LINC01422,HORMAD2-AS1,PIK3IP1-DT,MIR7109,MIR6818,MIR5739,LINC01638,LINC02558,SYN3-AS1,RN7SL305P,RN7SL20P,SMTN,TCN2,SLC5A4,SLC5A1,TIMP3,RNU6-331P,RNU6-1128P,RNU6-1066P,RN7SL633P,RNU6-564P,RNU6-338P,RN7SL757P,RNU6-1219P,RNU6-201P,RN7SL162P,RNU6-810P,LIF-AS1,SLC5A4-AS1,XBP1,THOC5,YWHAH,NIPSNAP1,MTMR3,SYN3,DEPDC5,SFI1,GAL3ST1,RFPL3,RFPL1S,MORC2,GAS2L1,SF3A1,RFPL2,RASL10A,RFPL3S,CHEK2,SIRPAP1,PITPNB,YWHAH-AS1,PATZ1,FBXO7,RHBDD3,TTC28,OSBP2,C22orf31,SEC14L2,PES1,PISD,AP1B1P1,AP1B1P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000067
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-1066P,LINC01638,MIR3199-1,MIR3199-2,RN7SL757P,MIR5739,RN7SL162P,XBP1,ZNRF3-AS1,C22orf31,RNU6-810P,RNU6-1219P,RASL10A,SNORD125,RFPL4AP6,RPEP4,RNU6-331P,MIR6818,CNN2P1,LIF-AS1,OSM,CASTOR1,RNU6-564P,MTFP1,SDC4P,SIRPAP1,MIR3200,EIF4HP2,MORC2-AS1,TUG1,RN7SL633P,PLA2G3,MIR3928,RNF185-AS1,RNU6-1128P,PIK3IP1,RNA5SP496,LINC01521,RNU6-338P,RNU6-28P,H2AFZP6,MIR7109,RN7SL20P,RNU6-201P,C22orf24,LINC02558,RN7SL305P,AP1B1P2,C22orf42,IGLCOR22-1,CPSF1P1,IGLCOR22-2,IGLVIVOR22-2,RNA5SP497,MIR4764,SNORA50B,LARGE-IT1,LINC02554,TTC28-AS1,HSCB,CCDC117,ZNRF3-IT1,RHBDD3,EWSR1,GAS2L1,RFPL1S,RFPL1,THOC5,NIPSNAP1,CABP7,UQCR10,ASCC2,LIF,TBC1D10A,SF3A1,CCDC157,SEC14L3,SEC14L4,GAL3ST1,PES1,TCN2,SLC35E4,DUSP18,SMTN,SELENOM,INPP5J,LIMK2,PISD,YWHAH,AP1B1P1,RFPL2,RFPL3,RTCB,BPIFC,FBXO7,TIMP3,LINC01640,LARGE-AS1,MN1,PITPNB,CHEK2,ZNRF3,KREMEN1,EMID1,NEFH,NF2,ZMAT5,MTMR3,HORMAD2-AS1,HORMAD2,SEC14L6,OSBP2,MORC2,RNF185,PIK3IP1-AS1,PATZ1,SFI1,PRR14L,DEPDC5,SLC5A1,SLC5A4-AS1,SLC5A4,RFPL3S,SYN3,TTC28,AP1B1,RNF215,SEC14L2,DRG1,EIF4ENIF1,LARGE1
Controls
No Control Data Available
No Animal Model Data Available