12p13.33-p13.31CNV Type: Duplication
Largest CNV size: 8304927 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
5575383
1
0
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
5778326
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
8304927
0
2
2
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
8079000
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
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
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
akkus_24_ASD/DD/ID_discovery_cases-case2B
12 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability
Developmental delay/intellectual disability
64620
5640002
5575383
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case861
M
Low weight, elongated face, synophrys and pointed fingers. Father with partial trisomy of chr 8 and monosomy of chr 12 karyotype.
64621
5842946
5778326
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004423
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
121255
8361746
8240492
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005167
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
121055
7272606
7151552
GRCh38
Duplication
Yes
sansovic_17_DD/ID/ASD_discovery_cases-case16
10 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
121255
8157127
8035873
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
akkus_24_ASD/DD/ID_discovery_cases-case2B
De novo
CCND2,CACNA1C,FKBP4,FOXM1,FGF6,GALNT8,PARP11,ITFG2,PRMT8,C12orf4,TIGAR,ANO2,ADIPOR2,WNK1,NRIP2,WNT5B,RHNO1,CCDC77,CRACR2A,CACNA2D4,FBXL14,DCP1B,ITFG2-AS1,B4GALNT3,RPL23AP14,OTUD4P1,HSPA8P5,IQSEC3,LRTM2,NINJ2-AS1,RPS4XP14,NINJ2,KCNA6,KCNA5,NDUFA9,KCNA1,NTF3,IQSEC3P1,LINC00940,LINC00942,HTR1DP1,MIR3649,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,TSPAN9-IT1,CBX3P4,CACNA1C-AS2,KDM5A,RAD52,LINC02443,SLC6A12-AS1,GAU1,TEX52,LINC02417,CCND2-AS1,LINC02827,LINC02455,PARP11-AS1,CACNA1C-AS3,TEAD4,SLC6A12,TULP3,SLC6A13,RNU6-174P,RNU4ATAC16P,RNU7-103P,RNU6-1315P,LINC02371,CACNA1C-IT1,FGF23,DYRK4,AKAP3,TSPAN9,RAD51AP1,ERC1
chaves_24_ASD/DD/ID_discovery_cases-case861
Paternal
CCND2,CACNA1C,FKBP4,FOXM1,FGF6,GALNT8,PARP11,ITFG2,PRMT8,C12orf4,TIGAR,ANO2,ADIPOR2,WNK1,NRIP2,WNT5B,RHNO1,CCDC77,CRACR2A,CACNA2D4,FBXL14,DCP1B,ITFG2-AS1,B4GALNT3,RPL23AP14,OTUD4P1,HSPA8P5,IQSEC3,LRTM2,NINJ2-AS1,RPS4XP14,NINJ2,KCNA6,KCNA5,NDUFA9,KCNA1,NTF3,IQSEC3P1,LINC00940,LINC00942,HTR1DP1,MIR3649,CACNA1C-AS1,CACNA1C-AS4,CACNA1C-IT3,TSPAN9-IT1,CBX3P4,CACNA1C-AS2,KDM5A,RAD52,LINC02443,SLC6A12-AS1,GAU1,TEX52,LINC02417,CCND2-AS1,LINC02827,LINC02455,PARP11-AS1,CACNA1C-AS3,TEAD4,SLC6A12,TULP3,SLC6A13,RNU6-174P,RNU4ATAC16P,RNU7-103P,RNU6-1315P,LINC02371,CACNA1C-IT1,FGF23,DYRK4,AKAP3,TSPAN9,RAD51AP1,ERC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004423
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,HSPA8P5,KCNA6,RN7SL69P,ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,RNU6-781P,COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,GAPDHP31,NIFKP3,GDF3,HSPD1P12,POU5F1P3,GCSHP4,ALG1L10P,RPS3AP43,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,CCND2-AS1,CCND2,FGF23,FGF6,C12orf4,RAD51AP1,AKAP3,NDUFA9,KCNA1,KCNA5,CD9,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,ACSM4,APOBEC1,DPPA3,NANOGNB,NANOG,NANOGP1,SLC2A3,FOXJ2,C3AR1,NECAP1,ZNF705A,FAM66C,DEFB109F,FAM90A1,FAM86FP,LINC02449,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,TIGAR,DYRK4,GAU1,GALNT8,NTF3,ANO2,VWF,IFFO1,ZNF384,CD4,PTPN6,PEX5,CD163L1,CD163,CLEC4C,SLC2A14,CLEC4A,ENPP7P5,ERC1,CACNA1C,TSPAN9,LINC02443,LINC00937
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005167
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,HSPA8P5,KCNA6,RN7SL69P,ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,RNU6-781P,COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,CCND2-AS1,CCND2,FGF23,FGF6,C12orf4,RAD51AP1,AKAP3,NDUFA9,KCNA1,KCNA5,CD9,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,TIGAR,DYRK4,GAU1,GALNT8,NTF3,ANO2,VWF,IFFO1,ZNF384,CD4,PTPN6,PEX5,ERC1,CACNA1C,TSPAN9,LINC02443
sansovic_17_DD/ID/ASD_discovery_cases-case16
Paternal
RNU7-103P,LINC02455,RNU4ATAC16P,HTR1DP1,LINC00942,MIR3649,RPS4XP14,CACNA1C-IT1,CACNA1C-IT2,CACNA1C-AS4,LINC02371,IQSEC3P1,RPL23AP14,CBX3P4,RNU6-1315P,TSPAN9-IT1,LINC02417,RNU6-174P,OTUD4P1,HSPA8P5,KCNA6,RN7SL69P,ATP5MFP5,RN7SL391P,SRP14P1,CD27-AS1,CD27,VAMP1,MRPL51,SCARNA10,NOP2,SCARNA11,ACRBP,PIANP,RNU6-781P,COPS7A,LAG3,RN7SL380P,GPR162,GNB3,TPI1,DSTNP2,C12orf57,RNU7-1,MIR200CHG,MIR200C,MIR141,PHB2,SCARNA12,C1R,RNU6-485P,GAPDHP31,NIFKP3,GDF3,HSPD1P12,POU5F1P3,GCSHP4,SLC6A12,KDM5A,LINC00940,CACNA1C-IT3,CACNA1C-AS3,CACNA1C-AS2,CACNA1C-AS1,ITFG2-AS1,FKBP4,ITFG2,NRIP2,TEX52,FOXM1,CCND2-AS1,CCND2,FGF23,FGF6,C12orf4,RAD51AP1,AKAP3,NDUFA9,KCNA1,KCNA5,CD9,PLEKHG6,TNFRSF1A,SCNN1A,LTBR,TAPBPL,NCAPD2,GAPDH,CHD4,LPAR5,ING4,MLF2,PTMS,P3H3,CDCA3,USP5,SPSB2,RPL13P5,LRRC23,ENO2,ATN1,EMG1,LPCAT3,C1S,C1RL,C1RL-AS1,RBP5,CLSTN3,ACSM4,APOBEC1,DPPA3,NANOGNB,NANOG,NANOGP1,SLC2A3,FOXJ2,C3AR1,NECAP1,ZNF705A,IQSEC3,SLC6A13,CCDC77,B4GALNT3,NINJ2,WNK1,RAD52,WNT5B,FBXL14,ADIPOR2,CACNA2D4,LRTM2,DCP1B,RHNO1,TULP3,TEAD4,PRMT8,CRACR2A,PARP11,TIGAR,DYRK4,GAU1,GALNT8,NTF3,ANO2,VWF,IFFO1,ZNF384,CD4,PTPN6,PEX5,CD163L1,CD163,CLEC4C,SLC2A14,CLEC4A,ERC1,CACNA1C,TSPAN9,LINC02443
Controls
No Control Data Available
No Animal Model Data Available