11q14.1-q14.2CNV Type: Duplication
Largest CNV size: 7803168 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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
Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances
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
bertini_22_ASD/ADHD/ODD/ID_discovery_cases
Individuals with 11q14.1 copy number variation affecting the DLG2 gene recruited during a 10-year period at the IRCCS Stella Maris Foundation and at AOU Pisana.
8
All 8 cases presented with intellectual disability (ID); 5 cases also presented with ADHD, two cases with oppositional defiant disorder (ODD), and one case with autism spectrum disorder (ASD).
Range, 4-16 yrs.
87.5% Male
1272565
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
7803168
0
2
2
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
bertini_22_ASD/ADHD/ODD/ID_discovery_cases
Italy
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Cytogenomics v.3.0.6.6
qPCR, aCGH
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
bertini_22_ASD/ADHD/ODD/ID_discovery_cases-case1
9 yrs.
M
ADHD and intellectual disability
Language and communication evaluation: receptive-expressive language disorder. Behavioral/psychiatric evaluation: ADHD; positive on CPRS-R. EEG: N/A. Brain imaging: normal brain MRI.
Mild intellectual disability (WISC-IV TIQ 62, VCI 62, PRI 80, WMI 64, PSI 82).
84870189
86142753
1272565
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002107
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
78362208
86165380
7803173
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005177
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
84828563
86641166
1812604
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
bertini_22_ASD/ADHD/ODD/ID_discovery_cases-case1
qPCR, aCGH
Maternal
DLG2,SYTL2,CREBZF,TMEM126B,TMEM126A,CCDC83,CCDC89,SLC25A1P1,HNRNPCP6,RNU6-1292P,PICALM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002107
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-311P,COPS8P3,MIR708,MIR5579,RNU6-544P,ARL6IP1P3,MTND4LP18,MTND6P25,MIR4300,RPS28P7,FAM181B,SNORA70E,C1DP5,PCF11-AS1,LDHAL6DP,HNRNPA1P72,HNRNPCP6,RNU6-1292P,TMEM126B,CCDC89,SLC25A1P1,RNU6-560P,DDIAS,RAB30,BCAS2P1,PCF11,CCDC90B,CYCSP28,TMEM126A,CREBZF,CCDC83,GAB2,NARS2,TENM4,MIR4300HG,RAB30-AS1,ANKRD42,SYTL2,PRCP,PICALM,DLG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005177
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HNRNPCP6,RNU6-1292P,TMEM126B,CCDC89,SLC25A1P1,RNU6-560P,MIR6755,SETP17,RN7SL225P,PTP4A1P6,TMEM126A,CREBZF,CCDC83,HIKESHI,SYTL2,EED,CCDC81,ME3,PICALM,DLG2
Controls
No Control Data Available
No Animal Model Data Available