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13q33.1-q34CNV Type: Deletion


Largest CNV size: 13600000 bp

Statistics Box:
Number of Reports: 3



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

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...
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental 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
 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
 13123353
 2
 0
 2
 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)
 
 13600000
 1
 0
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 13469336
 5
 0
 5

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
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K (n=145) or 4x180K (n=219)
 Agilent ADM1, threshold 6.7
 Feature Extraction V10.10.1.1; Agilent DNA Analytics V3.5 or Agilent Genomic Wrokbench 6.5
 None
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH (n=45,744 from Signature Genomic Labs)
  SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
 
 
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A

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-ISCA00001172
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 100987397
 114110750
  13123353
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001750
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101564376
 114110750
  12546374
 NCBI36
 Deletion
 Yes
  tzetis_12_DD/ID_discovery_cases-case77
 
 F
 ASD
 Cranio-fronto-nasal-dysplasia, heart defects, camptodactyly, hypoplastic nails, ASD
 
 100510439
 114114568
  13600000
 UCSC NCBI36/hg18
 Deletion
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-251238
 N/A
 F
 Dysmorphic features
 Database: DECIPHER. Indication for study: Anaemia, broad base to nose, clinodactyly, hypertelorism, long philtrum, lung hypoplasia/agenesis, nuchal bleb/cystic hygroma of neck, pleural effusion/chylothorax, thin upper lip
 
 104349523
 115092576
  10743053
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-DGDP067A
 N/A
 F
 Developmental delay and MCA
 Database: DGDP. Indication for study: Mixed receptive-expressive language delay, torticollis, multiple congenital anomalies, microcephaly, dysmorphic features.
 Developmental delay
 104573948
 115169878
  10595931
 hg19
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC30806
 N/A
 M
 DD/ID/MCA
 Database: Signature. Indication for study: Not Specified. Karyotype: der(13)t(13;20) w/~9Mb 20p gain
 
 104491643
 115169878
  10678235
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36693
 N/A
 F
 Dysmorphic features
 Database: Signature. Indication for study: Dysmorphic Features, ring 13 chromosome
 
 104353846
 115077941
  10724095
 hg19
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40762
 N/A
 F
 Developmental delay
 Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, 46,XX,der (13)t(2;13)(p25.1;q32) w/~5Mb 2p gain
 Developmental delay
 101700542
 115169878
  13469336
 hg19
 Deletion
 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-ISCA00001172
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001750
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 tzetis_12_DD/ID_discovery_cases-case77
 
 
 Unknown
 Unknown
 
 NALCN,ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,GAS6,FAM70B,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-251238
 
 
 Unknown
 Unknown
 Unknown
 DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-DGDP067A
 
 
 Unknown
 Unknown
 Unknown
 DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC30806
 FISH
 
 Unknown
 Unknown
 Unknown
 DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36693
 FISH
 
 Unknown
 Unknown
 Unknown
 DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40762
 FISH
 
 Maternal (balanced carrier)
 Unknown
 Unknown
 NALCN,ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1,DCUN1D2,TMCO3,TFDP1,ATP4B,GRK1,TMEM255B,GAS6,RASA3,CDC16,UPF3A,CHAMP1
 

Controls

No Control Data Available
No Animal Model Data Available
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