4q22.3-q23CNV Type: Deletion-Duplication
Largest CNV size: 4012276 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
CNVs 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...
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
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
4012276
1
1
2
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
845436
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
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
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
97580187
98539015
958829
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004023
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
94954967
98967243
4012277
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case6402_3
N/A
M
ASD
Autism, language delay (first words 24 mo, first phrases 60 mo), functional language, no dysmorphic features, no epilepsy, normal brain MRI. Family history: both parents with depression; three unaffected siblings (no DNA).
Borderline intellectual functioning (WISC III: VIQ 73, PIQ 80, FSIQ 74)
97641520
98486955
845436
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001026
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CRYZP2,DUTP8,RPL5P12,RAP1GDS1,STPG2,TSPAN5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004023
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPL30P6,PDHA2,RNU6-1059P,RNU6-34P,RN7SKP28,COX7A2P2,CRYZP2,DUTP8,BTF3P13,TBCAP3,FAM177A1P1,RNU7-149P,RPL5P12,EIF4E,BMPR1B,STPG2-AS1,RAP1GDS1,UNC5C,LINC02267,STPG2,TSPAN5
pinto_14_ASD_discovery_cases2-case6402_3
qPCR
De novo
Simplex
(3 siblings, no DNA)
CRYZP2,DUTP8,RPL5P12,RAP1GDS1,STPG2,TSPAN5
Controls
No Control Data Available
No Animal Model Data Available