1q41-q42.12CNV Type: Deletion
Largest CNV size: 3448457 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
3856465
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
3448457
1
0
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
6
0
6
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
3500000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
digregorio_17_DD/ID_discovery_cases-DECIPHER_300673
N/A
M
Developmental delay/intellectual disability
222648036
226490141
3842106
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case22174
NA
NA
ASD
NA
NA
221260860
224709317
3448457
Unknown
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case6
M
Epilepsy
Craniofacial dysmorphism typical of 1q41-q42 microdeletion syndrome, diaphragmatic hernia, cryptorchid testes, failure to thrive, seizures, Pelger-Huet anomaly
225029411
228619890
3590480
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_300673
qPCR
De novo
NDUFB1P2,RNU4-57P,CCDC185,SNRPEP10,RNU6-1248P,PHBP11,ACTBP11,CICP5,RNU6-1319P,RN7SKP49,MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,MIA3,BROX,FAM177B,TLR5,TP53BP2,GTF2IP20,DEGS1,CNIH4,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,AIDA,DISP1,CAPN8,CAPN2,FBXO28,NVL,CNIH3,DNAH14,ENAH,EPHX1,PARP1,SUSD4,WDR26
rosenfeld_10_ASD_discovery_cases-case22174
FISH
De novo
Unknown
Unknown
TLR5,SUSD4,C1orf65,CAPN8,CAPN2,TP53BP2,FBXO28,DEGS1,NVL,CNIH4,WDR26,CNIH3,DNAH14,LBR,ENAH,SRP9,EPHX1,TMEM63A,LEFTY1,PYCR2,LEFTY2,C1orf55,H3F3A,ACBD3,MIXL1,LIN9,PARP1
tzetis_12_DD/ID_discovery_cases-case6
Unknown
Unknown
RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,CDKN2AIPNLP1,RPS27P5,NUCKS1P1,BTF3P9,TUBB8P10,RNA5SP77,JMJD4,SNAP47-AS1,MIR5008,CICP26,SEPT14P17,MIR3620,C1orf35,MRPL55,FAM96AP2,GJC2,IBA57-DT,TRIM11,MIR6742,HIST3H3,RPL23AP15,HIST3H2A,MIR4666A,HIST3H2BA,BTNL10,RNA5SP19,RNA5SP162,RNA5S1,RNA5S2,RNA5S3,RNA5S4,RNA5S5,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,STUM,ITPKB,ITPKB-IT1,ITPKB-AS1,COQ8A,TUBB8P9,ZNF847P,SNAP47,PRSS38,WNT3A,ARF1,GUK1,IBA57,OBSCN-AS1,TRIM17,RNF187,DNAH14,ENAH,EPHX1,PARP1,PSEN2,CDC42BPA,LINC01641,ZNF678,WNT9A,OBSCN,HIST3H2BB
Controls
No Control Data Available
No Animal Model Data Available