18q12.1-q12.2CNV Type: Deletion
Largest CNV size: 3200000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Etiological yield of SNP microarrays in idiopathic intellectual disability.
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
gilling_08_ASD_discovery_cases
38-year-old Danish female with childhood autism & high-grade myopia
1
ASD. Diagnosis of childhood autism (as defined in ICD-10) based on ADOS (module 4) & ADI-R.
38 yrs.
Female
3200000
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
4281527
0
1
1
utine_14_DD/ID/ASD_discovery_cases
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
100
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Range, 2-22 yrs. (mean age, 10.8 yrs.)
75% Male
5925000
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
gilling_08_ASD_discovery_cases
Danish
aCGH
BACs aCGH (Whole-genome 32K BAC array)
FISH
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
utine_14_DD/ID/ASD_discovery_cases
Turkey
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.0
aCGH
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
gilling_08_ASD_discovery_cases-case1
38 yrs.
F
ASD
Diagnosis of childhood autism (as defined in ICD-10) based on ADOS (module 4) & ADI-R by age 34 yrs. ADOS test results: communication, 7 (autism cutoff 3); qualitative impairment of reciprocal social interaction, 7 (autism cutoff 6); total score, 14 (autism cut-off 10). ADI-R test results: qualitative impairment in reciprocal social interaction, 27 (autism cut-off 10); communication, 18 (autism cut-off 8); restricted & repetitive behavior, 9 (autism cut-off 3). Developmental milestones: sat at 9 mos., walked unaided at 17 mos., first words & sentences at 42 mos. Delayed psychomotor & language development. Behavioral difficulties. Previously diagnosed with childhood autism at 3 yrs. of age; attended school for autistic children until 18 yrs., then moved to an institution for autistic adults. Mild cerebral palsy. Hyperflexible joints. High-grade mypoia (12 dioptres, right eye; -11 dioptres, left eye). Hypersensitivity to sounds. No dysmorphic features. Family history: mother & father healthy; younger sister phenotypically normal
Wechsler Adult Intelligence Scale-Revised (WAIS-R) IQ scores: verbal IQ, 78; performance IQ, 105; full IQ, 88.
34363038
37558039
3195002
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002492
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
35097761
39379288
4281528
GRCh38
Duplication
Yes
utine_14_DD/ID/ASD_discovery_cases-case4
3.5 yrs.
M
Developmental delay and autism/autistic features
Referred for developmental delay. Behavioral/psychiatric evaluation: autism/autistic features; irritability, hyperactivity, stereotypies. Epilepsy/seizures: yes. Brain imaging: normal. Dysmorphic features: mid-face hypoplasia, small mouth, bulbous nose.
Moderate DD/ID (main area of delay/disability: language)
27300000
33200000
5925000
Unknown
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
gilling_08_ASD_discovery_cases-case1
FISH
De novo
Simplex
NA
MIR3975,NRBF2P1,MIR187,MIR3929,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,DTNA,GALNT1,FHOD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002492
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,RN7SKP182,RNU6-706P,RPL7AP66,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,GALNT1,FHOD3
utine_14_DD/ID/ASD_discovery_cases-case4
aCGH
De novo
Unknown
Possibly segregated
Multiple genes
Controls
No Control Data Available
No Animal Model Data Available