18q22.3-q23CNV Type: Deletion-Duplication
Largest CNV size: 5186712 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
CNVs within this region were identified in two cases 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-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Deletion
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
5726735
1
0
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
7265972
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
8867732
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
7362795
2
0
2
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
5186712
1
1
2
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
7188487
1
0
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
9099624
2
1
3
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
6898033
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
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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
akkus_24_ASD/DD/ID_discovery_cases-case3A
5 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability
Developmental delay/intellectual disability
74529506
80256240
5726735
GRCh38
Deletion
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case576
8.33 yrs.
M
ASD, developmental delay, and intellectual disability
Developmental milestones: delayed speech and language development (HP:0000750), global developmental delay (HP:0001263). Behavioral/psychiatric evaluation: autism (HP:0000717). Dysmorphic features: abnormal facial shape (HP:0001999). Growth parameters: head circumference 51.2 cm, height 125 cm, weight 33.8 kg.
Intellectual disability (HP:0001249)
72986766
80252737
7265972
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case127
N/A
F
Developmental delay, intellectual disability, and epilepsy
Low weight, congenital anomalies, developmental delay, intellectual disability, epilepsy and facial dysmorphism. Karyotype: 46, XX, der(18)t(10; 18) (q25.2; q22,2) mat; 46, XX, add(18)(q23).
Intellectual disability
71388509
80256240
8867732
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D1940
1 yr. 2 mos.
M
Developmental delay
Case presented with 18q21.31-q23 mosaic deletion (x12).
74723823
80256240
5532418
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case17D138
2 mos. 15 days
F
Developmental delay
Facial dysmorphism
72893446
80256240
7362795
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001801
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
74207209
79351148
5143940
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003937
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
75300296
80252149
4951854
GRCh38
Duplication
Yes
levchenko_22_DD/ID_discovery_cases-caseD898
NA
F
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided.
73067754
80256240
7188487
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530618
F
Developmental delay and intellectual disability
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999), microcephaly (HP:0000252)
Intellectual disability (HP:0001249).
73323662
80373285
7049624
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530621
F
Intellectual disability
Abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
73673662
80373285
6699624
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530624
F
Developmental delay
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
71273662
80373285
9099624
GRCh38
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case29
NA
F
Intellectual disability
Congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
73354117
80252149
6898033
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
akkus_24_ASD/DD/ID_discovery_cases-case3A
De novo
SALL3,ZNF407,RBFA,SLC66A2,CNDP1,PARD6G,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,HSBP1L1,LINC01896,BDP1P,RPL26P35,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,SLC25A6P4,LINC01898,RBFADN,RNA5SP461,LINC01029,ZNF516-AS1,LINC01927,LINC01893,CCND3P2,RNU6-655P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
akter_24_ASD/ADHD/DD/ID_discovery_cases-case576
Unknown
CYB5A,SALL3,TIMM21,CNDP2,ZNF407,RBFA,SLC66A2,CNDP1,PARD6G,DIPK1C,FAUP1,FBXO15,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC02864,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,HSBP1L1,C18orf63,LINC01896,BDP1P,RPL26P35,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,SLC25A6P4,LINC01898,RBFADN,LINC02582,RNA5SP461,LINC01029,ZNF516-AS1,LINC01927,LINC01922,LINC01893,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
chaves_19_ASD/DD/ID_discovery_cases-case127
Possibly maternal
HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,LINC01899,LINC02864,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,LINC01893,LINC01927,LINC01879,GALR1,SALL3,KCNG2,SLC66A2,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,DIPK1C,LINC00683,CTDP1
han_22_ASD/DD/ID_discovery_cases-case15D1940
De novo
SALL3,ZNF407,RBFA,SLC66A2,PARD6G,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC00683,ARL2BPP1,ZNF516-DT,HSBP1L1,LINC01896,BDP1P,RPL26P35,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,SLC25A6P4,LINC01898,RBFADN,RNA5SP461,LINC01029,ZNF516-AS1,LINC01927,LINC01893,CCND3P2,RNU6-655P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
han_22_ASD/DD/ID_discovery_cases-case17D138
Unknown
CYB5A,SALL3,TIMM21,CNDP2,ZNF407,RBFA,SLC66A2,CNDP1,PARD6G,DIPK1C,FAUP1,FBXO15,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC02864,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,HSBP1L1,C18orf63,LINC01896,BDP1P,RPL26P35,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,SLC25A6P4,LINC01898,RBFADN,LINC02582,RNA5SP461,LINC01029,ZNF516-AS1,LINC01927,LINC01922,LINC01893,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001801
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,LINC00908
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003937
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,LINC00908,CTDP1
levchenko_22_DD/ID_discovery_cases-caseD898
Unknown
CYB5A,SALL3,TIMM21,CNDP2,ZNF407,RBFA,SLC66A2,CNDP1,PARD6G,DIPK1C,FAUP1,FBXO15,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC02864,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,HSBP1L1,C18orf63,LINC01896,BDP1P,RPL26P35,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,SLC25A6P4,LINC01898,RBFADN,LINC02582,RNA5SP461,LINC01029,ZNF516-AS1,LINC01927,LINC01922,LINC01893,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530618
Unknown
CYB5A,SALL3,TIMM21,CNDP2,ZNF407,RBFA,SLC66A2,CNDP1,PARD6G,DIPK1C,FAUP1,FBXO15,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,HSBP1L1,C18orf63,LINC01896,BDP1P,RPL26P35,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,SLC25A6P4,LINC01898,RBFADN,LINC02582,RNA5SP461,LINC01029,ZNF516-AS1,LINC01927,LINC01922,LINC01893,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530621
Unknown
CYB5A,SALL3,TIMM21,CNDP2,ZNF407,RBFA,SLC66A2,CNDP1,PARD6G,DIPK1C,FAUP1,FBXO15,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,HSBP1L1,C18orf63,LINC01896,BDP1P,RPL26P35,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,SLC25A6P4,LINC01898,RBFADN,RNA5SP461,LINC01029,ZNF516-AS1,LINC01927,LINC01922,LINC01893,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530624
Unknown
CYB5A,SALL3,TIMM21,CNDP2,ZNF407,RBFA,SLC66A2,NETO1,CNDP1,PARD6G,DIPK1C,CBLN2,FAUP1,FBXO15,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC02864,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,HSBP1L1,C18orf63,LINC01896,BDP1P,RPL26P35,HNRNPA1P11,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,LINC01541,SLC25A6P4,LINC01898,NETO1-DT,RBFADN,LINC02582,MIR548AV,RNA5SP461,RNA5SP460,LINC01029,ZNF516-AS1,LINC01927,LINC01922,LINC01899,LINC01893,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
streata_22_ASD/DD/ID_discovery_cases-case29
Unknown
CYB5A,SALL3,TIMM21,CNDP2,ZNF407,RBFA,SLC66A2,CNDP1,PARD6G,DIPK1C,FAUP1,FBXO15,GALR1,ZADH2,SMIM21,ATP9B,LINC01879,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,HSBP1L1,C18orf63,LINC01896,BDP1P,RPL26P35,PARD6G-AS1,MBP,NFATC1,ZNF236-DT,SLC25A6P4,LINC01898,RBFADN,RNA5SP461,LINC01029,ZNF516-AS1,LINC01927,LINC01922,LINC01893,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-346P,ZNF236,TSHZ1,ZNF516,CTDP1,TXNL4A,ADNP2,KCNG2
Controls
No Control Data Available
No Animal Model Data Available