18q22.2-q23CNV Type: Deletion
Largest CNV size: 11004562 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
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
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
10565777
1
0
1
de_carvalho_24_DD/ID_discovery_cases
Patients evaluated between 2011 and 2014 from the Medical Genetic Clinic of SGM/HUPES/UFBA (Bahia) and collaborating institutions, Albert Sabin Children's Hospital (Ceara), State Secretariat of Public Health of Rio Grande do Norte, Potiguar University (UNP/Rio Grande do Norte), and Association of Parents and Friends of Exceptional People, Sao Luiz (Maranhao).
119
Intellectual disability with or without dysmorphic features, as well as normal karyotype and fragile X exams, was the inclusion criteria for participating in this study.
9497255
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
7502880
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
11004562
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
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
de_carvalho_24_DD/ID_discovery_cases
Brazil
CMA
Illumina Scan Sqsistem, Illumina Human CytoSNP-12 BeadChip
Illumina GenomeStudio v.2010.1, KaryoStudio v.1.4.3.0 Build 37 (CNV Plugin v.3.0.7.0)
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
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
chaves_19_ASD/DD/ID_discovery_cases-case33
N/A
F
Intellectual disability
Severe intellectual disability, motor difficulties and facial dysmorphism and hypotonia
Severe intellectual disability
69690069
80255845
10565777
GRCh38
Deletion
No
de_carvalho_24_DD/ID_discovery_cases-case4
13 yrs.
M
Developmental delay and intellectual disability
Developmental milestones: neuropsychotropic delay. Dysmorphic features: craniosynostosis, low anterior hair implantation, additional dysmorphic features.
Intellectual disability
70759445
80256699
9497255
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case15D3094
4 yrs. 2 mos.
M
Developmental delay and intellectual disability
Speech delay
Intellectual disability
69550577
77053456
7502880
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001168
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
69288245
80252149
10963905
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
chaves_19_ASD/DD/ID_discovery_cases-case33
Unknown
LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,SOCS6,LINC01909,LIVAR,LINC01899,LINC02864,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,LINC01893,LINC01927,LINC01879,GALR1,SALL3,KCNG2,SLC66A2,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,DIPK1C,LINC00683,CTDP1
de_carvalho_24_DD/ID_discovery_cases-case4
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
han_22_ASD/DD/ID_discovery_cases-case15D3094
De novo
CYB5A,TIMM21,CNDP2,ZNF407,NETO1,CNDP1,DIPK1C,CBLN2,FAUP1,DOK6,GTSCR1,FBXO15,ZADH2,SMIM21,RPS2P6,LINC01879,LINC02864,LINC00683,ZNF407-AS1,ARL2BPP1,ZNF516-DT,C18orf63,RPL26P35,HNRNPA1P11,MBP,ZNF236-DT,LINC01541,LINC01898,NETO1-DT,LINC02582,MIR548AV,RNA5SP460,LINC01910,ZNF516-AS1,LINC01927,LINC01922,LINC01909,LINC01899,LIVAR,LINC01893,RN7SL795P,CCND3P2,RN7SL551P,RN7SL401P,LARP7P3,RNU6-346P,ZNF236,TSHZ1,ZNF516,SOCS6,CD226,RTTN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001168
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,LINC00908,CTDP1
Controls
No Control Data Available
No Animal Model Data Available