12q15-q21.2CNV Type: Duplication
Largest CNV size: 6841000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
The precise breakpoints for this large duplication, identified in a patient with developmental delay, were not provided in the original report; as such, the exact gene content of this duplication is unknown.
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
Title
Author, Year
Report Class
CNV Type
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
6841000
0
1
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
9061285
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
7136076
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
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
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
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
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
gannon_11_ASD/DD_discovery_cases-patient38
Developmental delay
No dysmorphic features; language-based learning disorder, anxiety disorder not otherwise specified
IQ70
NA
NA
6841000
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005204
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
70390897
79214318
8823422
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case90
NA
M
Developmental delay and intellectual disability
Global developmental delay, speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
69576591
76712666
7136076
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gannon_11_ASD/DD_discovery_cases-patient38
Unknown
Unknown
NA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005204
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU4-65P,FAHD2P1,CHCHD3P2,RNU6-1012P,VENTXP3,ATXN7L3B,CCNG2P1,RPL10P13,RN7SL734P,PHLDA1,RNU6-1271P,RN7SKP172,BBS10,RPL7AP9,YWHAQP7,RPL7P43,LINC02464,ZFC3H1,THAP2,RAB21,TBC1D15,TRHDE-AS1,LINC02444,LINC02394,GLIPR1L2,NAP1L1,CSRP2,E2F7,LINC02424,KCNMB4,PTPRB,PTPRR,LGR5,TMEM19,TPH2,LINC02445,KCNC2,CAPS2,GLIPR1L1,ZDHHC17,SYT1,TSPAN8,TRHDE,OSBPL8,NAV3,GLIPR1,KRR1
streata_22_ASD/DD/ID_discovery_cases-case90
Unknown
KCNMB4,TRHDE,TMEM19,BBS10,TBC1D15,THAP2,CAPS2,RAB3IP,OSBPL8,TPH2,BEST3,GLIPR1L2,MYRFL,ZFC3H1,GLIPR1L1,TRHDE-AS1,LRRC10,VENTXP3,RPL10P13,RPL7AP9,ATXN7L3B,MRS2P2,FAHD2P1,CCNG2P1,KCNC2,NAP1L1,CNOT2,MIR3913-2,YWHAQP7,MIR3913-1,CHCHD3P2,LINC02882,PRANCR,PTPRB,PTPRR,LINC02444,LINC02445,LNCOG,LINC02394,LINC02821,TSPAN8,RNU6-1271P,RN7SL734P,RNU4-65P,RN7SKP172,RNU6-1012P,CAPS2-AS1,LGR5,H3P35,PHLDA1-AS1,PHLDA1-DT,KRR1,GLIPR1,PHLDA1,FRS2,CCT2,RAB21
Controls
No Control Data Available
No Animal Model Data Available