20p12.3-p12.2CNV Type: Duplication
Largest CNV size: 401994 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential 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
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
1018324
NA
NA
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
3462051
1
1
2
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
1800000
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
401994
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
1018324
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
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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-case27522
14 yrs. 8 mos.
M
Developmental delay
Speech delay. Behavioral problems: ADHD, Tourette syndrome. Normal tone. Movement disorder. Nondysmorphic. Other features: osteochondroma on right femur. Growth parameters: height 90th %ile, OFC +1.0 SD. Family history: mother and twin brother with Tourette syndrome; hearing loss in father, post-infection.
Developmental delay; in special education
8417440
9435764
1018325
GRCh38
NA
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001721
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
8822784
9314724
491941
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002767
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7566644
11028694
3462051
GRCh38
Deletion
Yes
napoli_17_ASD_discovery_cases-case5
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
8715832
10508508
1792677
GRCh38
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case9901
NA
NA
ASD
NA
NA
8965717
9367711
401994
Unknown
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-case27522
FISH, aCGH, or confirmation by inheritance
Unknown
Multiplex for Tourette syndrome
Unknown
RNU105B,PLCB4,PLCB1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001721
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU105B,PLCB4,PLCB1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002767
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL547P,PHKBP1,PLCB1-IT1,RNU105B,LAMP5-AS1,HIGD1AP15,RPL23AP6,MIR6870,LINC01752,FAT1P1,C20orf187,HAO1,LAMP5,PARAL1,ANKEF1,SDAD1P2,MKKS,JAG1,TMX4,PAK5,SNAP25-AS1,SNAP25,PLCB4,SLX4IP,PLCB1
napoli_17_ASD_discovery_cases-case5
RT-PCR
Unknown
RNU105B,LAMP5-AS1,HIGD1AP15,RPL23AP6,LAMP5,PARAL1,ANKEF1,SDAD1P2,MKKS,PAK5,SNAP25-AS1,SNAP25,PLCB4,SLX4IP,PLCB1
rosenfeld_10_ASD_discovery_cases-case9901
FISH
Maternal
Unknown
Unknown
PLCB4
Controls
No Control Data Available
No Animal Model Data Available