4q32.3-q34.1CNV Type: Deletion
Largest CNV size: 4349411 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion 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...
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
de_carvalho_24_DD/ID_discovery_cases
Patients evaluated between 2011 and 2014 from the Medical Genetic Clinic of SGM/HUPES/UFBA (Bahia) and collaborating institutions, Albert Sabin Children's Hospital (Ceara), State Secretariat of Public Health of Rio Grande do Norte, Potiguar University (UNP/Rio Grande do Norte), and Association of Parents and Friends of Exceptional People, Sao Luiz (Maranhao).
119
Intellectual disability with or without dysmorphic features, as well as normal karyotype and fragile X exams, was the inclusion criteria for participating in this study.
5597634
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
4349411
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
de_carvalho_24_DD/ID_discovery_cases
Brazil
CMA
Illumina Scan Sqsistem, Illumina Human CytoSNP-12 BeadChip
Illumina GenomeStudio v.2010.1, KaryoStudio v.1.4.3.0 Build 37 (CNV Plugin v.3.0.7.0)
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
de_carvalho_24_DD/ID_discovery_cases-case6
11 yrs.
M
Intellectual disability
Additional medical history: cryptorchidism. Dysmorphic features: protruding ears, ocular hypertelorism, low anterior hairline, flattened skull, micrognathia, short neck.
Intellectual disability
167847456
173445089
5597634
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004573
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
167851017
172200428
4349412
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
de_carvalho_24_DD/ID_discovery_cases-case6
Unknown
CLCN3,AADAT,GALNT7,HPF1,DDX60,SH3RF1,DDX60L,CBR4,HMGB2,RPL5P11,PTGES3P3,HSP90AA6P,GALNTL6,RPL9P16,NEK1,RPL6P12,RNY4P17,MIR548T,LINC02431,BTF3L4P4,LINC02275,LINC02382,LINC01612,LINC02504,MIR6082,LINC02174,SAP30-DT,APOBEC3AP1,RN7SL253P,RNU6-853P,RNU6ATAC13P,RNU6-1336P,PALLD-AS1,LINC02512,SAP30,CBR4-DT,MFAP3L,ANXA10,SCRG1,PALLD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004573
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BTF3L4P4,RNU6-1336P,RPL9P16,RNU6-853P,RNY4P17,RPL6P12,PTGES3P3,APOBEC3AP1,LINC02382,RNU6ATAC13P,MIR6082,CLCN3,LINC02275,AADAT,LINC01612,LINC02512,HSP90AA6P,LINC02504,LINC02174,ANXA10,DDX60,DDX60L,CBR4,SH3RF1,NEK1,HPF1,MFAP3L,LINC02431,PALLD,GALNTL6
Controls
No Control Data Available
No Animal Model Data Available