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11p13-p12CNV Type: Deletion-Duplication


Largest CNV size: 3688277 bp

Statistics Box:
Number of Reports: 2



Summary Information

CNVs within this region were found in three 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

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication

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
 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
 3688277
 2
 1
 3
 xu_08_WAGR/ASD/DD/ID_discovery_cases
 Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
 31
 All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
 Range, 3-46 yrs.
 45.16% Male
 6800000
 1
 0
 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
 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
 xu_08_WAGR/ASD/DD/ID_discovery_cases
  N/A
 FISH
 
 
 
 aCGH (Agilent)

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
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001026
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 35135480
 37649168
  2513689
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001811
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 35103218
 38791492
  3688275
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002493
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 34161694
 36799127
  2637434
 GRCh38
 Duplication
 Yes
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH8
 8 yrs.
 M
 WAGR syndrome, ASD, and ID
 PDD-NOS
 Intellectual disability
 32402096
 39210202
  6808107
 GRCh38
 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-ISCA00001026
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CD44-AS1,KRT18P14,RPL12P31,MIR3973,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001811
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,LINC01493
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002493
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH8
 aCGH (Agilent)
 
 De novo
 
 Likely segregated
 HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,LINC01493,KIAA1549L
 

Controls

No Control Data Available
No Animal Model Data Available
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