2q36.1-q36.2CNV Type: Deletion
Largest CNV size: 3281928 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
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
3400000
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
3281928
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
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
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
ceylan_18_DD/ID_discovery_cases-case5
8 mos.
N/A
Developmental delay
Developmental milestones: developmental delay. Dysmorphic features: prominent forehead, hypoplastic alae nasi, epicanthal fold. Other findings: none.
221821678
225233156
3411479
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004200
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
221387419
224669350
3281932
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
ceylan_18_DD/ID_discovery_cases-case5
De novo
HSPA9P1,RPL23AP28,CCDC140,NANOGP2,RNU6-619P,GAPDHP49,ATG12P2,RN7SL807P,HIGD1AP4,SCG2,MRPL44,MIR4439,FARSB,ACSL3,AP1S3,CCDC195,SGPP2,MOGAT1,KCNE4,WDFY1,SERPINE2,CUL3,DOCK10,PAX3,FAM124B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004200
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
TMEM256P2,HSPA9P1,RPL23AP28,CCDC140,NANOGP2,RNU6-619P,GAPDHP49,ATG12P2,RN7SL807P,HIGD1AP4,SCG2,MRPL44,FARSB,ACSL3,AP1S3,EPHA4,SGPP2,MOGAT1,KCNE4,WDFY1,SERPINE2,CUL3,PAX3,FAM124B
Controls
No Control Data Available
No Animal Model Data Available