13q21.33-q31.1CNV Type: Duplication
Largest CNV size: 10636876 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
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
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
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
11500000
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
10636876
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
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
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
battaglia_13_DD/ID/ASD_discovery_cases-case29
4 yrs. 6 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
68290037
79804475
11514439
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
71509212
82146085
10636874
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
battaglia_13_DD/ID/ASD_discovery_cases-case29
FISH or qPCR
De novo
Unknown
Unknown
ELL2P3,HNRNPA1P18,RPL37P21,RPS3AP52,RPL12P34,RN7SL761P,LINC02342,ZDHHC20P4,SNRPFP3,SRSF1P1,RNY3P10,RNU6-54P,MTCL1P1,RABEPKP1,H3F3BP1,RPL21P109,RPL35AP31,RPS10P21,RPL18AP17,RPL21P110,RNU6-80P,RNU6-79P,PSMD10P3,FABP5P1,RNU6-66P,RNU4-10P,RNY1P8,MARK2P12,RNY1P5,RPL21P108,RIOK3P1,RNU6-38P,SSR1P2,CTAGE11P,FAM204CP,LMO7DN-IT1,LINC00561,LINC01034,RN7SL571P,KCTD12,BTF3P11,RPL7P44,DHX9P1,MYCBP2-AS2,SCEL-AS1,RNY3P7,SPTLC1P5,MIR3665,EDNRB-AS1,RN7SL810P,LINC01069,SRGNP1,RNY3P3,RPL31P54,ELOCP23,POU4F1,RPL21P111,HSPD1P8,CCT5P2,NIPA2P5,BCAS2P3,RNA5SP33,LINC01068,LINC01038,LINC00550,LINC00383,PSMC1P13,MZT1,DIS3,KLF5,LINC00392,LINC00402,LINC00381,LINC00347,LINC01078,COMMD6,UCHL3,LMO7DN,ACOD1,CLN5,FBXL3,EDNRB,LINC00446,LINC00331,RBM26,RBM26-AS1,NDFIP2-AS1,NDFIP2,KLHL1,ATXN8OS,LINC00348,DACH1,BORA,PIBF1,LINC00393,KLF12,TBC1D4,LMO7-AS1,LMO7,MYCBP2-AS1,MYCBP2,SLAIN1,RNF219-AS1,SCEL,RNF219
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
H3F3BP1,RPL21P109,RPL35AP31,RPS10P21,RPL18AP17,RPL21P110,RNU6-80P,RNU6-79P,PSMD10P3,FABP5P1,RNU6-66P,RNU4-10P,RNY1P8,MARK2P12,RNY1P5,RPL21P108,RIOK3P1,RNU6-38P,SSR1P2,CTAGE11P,FAM204CP,LMO7DN-IT1,LINC00561,LINC01034,RN7SL571P,KCTD12,BTF3P11,RPL7P44,DHX9P1,MYCBP2-AS2,SCEL-AS1,RNY3P7,SPTLC1P5,MIR3665,EDNRB-AS1,RN7SL810P,LINC01069,SRGNP1,RNY3P3,RPL31P54,ELOCP23,POU4F1,RPL21P111,HSPD1P8,CCT5P2,NIPA2P5,BCAS2P3,RNA5SP33,LINC01068,LINC01038,SPRY2,RNU6-61P,HNRNPA1P31,PWWP2AP1,ARF4P4,LINC00377,DPPA3P3,LINC00564,RNU6-77P,HIGD1AP2,MZT1,DIS3,KLF5,LINC00392,LINC00402,LINC00381,LINC00347,LINC01078,COMMD6,UCHL3,LMO7DN,ACOD1,CLN5,FBXL3,EDNRB,LINC00446,LINC00331,RBM26,RBM26-AS1,NDFIP2-AS1,NDFIP2,LINC00382,LINC01080,PTMAP5,DACH1,BORA,PIBF1,LINC00393,KLF12,TBC1D4,LMO7-AS1,LMO7,MYCBP2-AS1,MYCBP2,SLAIN1,RNF219-AS1,SCEL,RNF219
Controls
No Control Data Available
No Animal Model Data Available