14q32.13-q32.2CNV Type: Duplication
Largest CNV size: 666399 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
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
666399
0
1
1
sabbagh_23_ASD/DD/ID_discovery_cases
Four cases with de novo microdeletions affecting the BCL11B gene (from an initial cohort of 20 previously unreported individuals with BCL11B variants assembled via an international collaboration)
4
Cases presented with autism spectrum disorder (ASD), developmental delay (DD), and/or intellectual disability (ID)
Range, 2.3-44 yrs.
50% Male
4178495
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
sabbagh_23_ASD/DD/ID_discovery_cases
aCGH
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-ISCA00001756
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
95787358
96453757
666400
GRCh38
Duplication
Yes
sabbagh_23_ASD/DD/ID_discovery_cases-case16
20 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: neurodevelopmental delay, delayed ability to walk (16 months), speech delay (first words at 23 months), inability to read. Motor and musculoskeletal evaluation: flexion deformity of finger, contractures. Visual evaluation: refractive error, hyperopia, strabismus. Additional medical history: constipation. Dysmorphic features: myopathic facial appearance, thin eyebrows, semi-lunar shape of eyelids when smiling, beaked nose, long and smooth philtrum, thin upper lip vermillion, posteriorly rotated ears, dental anomalies (malposition).
Intellectual disability
95390233
99568727
4178495
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001756
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU2-33P,PEBP1P1,TUNAR,CKS1BP1,BDKRB1,GSKIP,C14orf132,BDKRB2,ATG2B,AK7
sabbagh_23_ASD/DD/ID_discovery_cases-case16
De novo
BDKRB1,BDKRB2,TCL6,GSKIP,GLRX5,ATG2B,C14orf132,BCL11B,SETD3,AK7,SYNE3,LINC02914,SNHG10,CKS1BP1,RPL3P4,CCDC85C,PEBP1P1,RPL23AP10,LINC01550,SCARNA13,PAPOLA-DT,LINC02291,LINC02312,TUNAR,LINC02318,LINC02325,LINC02299,LINC02295,LINC02304,VRK1,RNU6-91P,RNU2-33P,RN7SKP108,RN7SL714P,TCL1A,CCNK,TCL1B,PAPOLA
Controls
No Control Data Available
No Animal Model Data Available