3p12.3-p11.2CNV Type: Deletion
Largest CNV size: 11470845 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletion identified in a male patient with developmental delay (Girirajan et al., 2012)
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
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
11470845
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
7147632
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
11470845
NA
NA
NA
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
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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
girirajan_12_ASD/DD/ID_discovery_cases-case35416
4 yrs. 8 mos.
M
Developmental delay
Motor and speech delays, hypotonia. Dysmorphic features: prominent ear inner helix, prominent knees. Congenital anomalies: ventricular septal defect (VSD). Growth parameters: weight 3rd %ile, height 50th %ile, OFC -3.2 SD. Family history: father has similar ears.
Developmental delay
76675515
88146361
11470847
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001583
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80320584
87468216
7147633
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
girirajan_12_ASD/DD/ID_discovery_cases-case35416
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNU6-386P,VDAC1P7,RNU6-217P,LINC02077,RN7SL647P,RN7SKP61,MRPS17P3,MIR3923,HMGB1P38,OSBPL9P1,HNRNPA3P8,RNU2-28P,SETP6,RPL7AP23,CYP51A1P1,SRRM1P2,MIR5688,THAP12P2,RNU6-1129P,RN7SKP284,PPATP1,MIR4795,KRT8P25,APOOP2,PSMC1P6,RNU6-873P,RNU6ATAC6P,HTR1F,CBX5P1,RN7SL751P,LINC02050,LINC02025,CADM2-AS2,CADM2-AS1,LINC02070,LINC00506,CHMP2B,POU1F1,LINC02027,GBE1,LINC02008,LINC00971,VGLL3,ROBO2,ROBO1,CADM2,CGGBP1,ZNF654
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001583
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU2-28P,SETP6,RPL7AP23,CYP51A1P1,SRRM1P2,MIR5688,THAP12P2,RNU6-1129P,RN7SKP284,PPATP1,MIR4795,KRT8P25,LINC02050,LINC02025,CADM2-AS2,CADM2-AS1,LINC02070,LINC00506,CHMP2B,POU1F1,LINC02027,GBE1,LINC02008,LINC00971,VGLL3,CADM2
Controls
No Control Data Available
No Animal Model Data Available