18q11.2-q12.2CNV Type: Deletion
Largest CNV size: 11000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 18q11.2-q12.2 deletion was identified in a Korean male patient presenting with developmental delay/intellectual disability and dysmorphic features (Kim et al., 2018).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
11000000
1
0
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kim_18_DD/ID_discovery_cases-case6
9 yrs. 11 mos.
M
Developmental delay/intellectual disability
Dysmorphic features
Developmental delay/intellectual disability
26420582
37275706
10855125
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
kim_18_DD/ID_discovery_cases-case6
De novo
LINC01543,MIR8057,CIAPIN1P,UBA52P9,RBM22P1,PA2G4P3,ARIH2P1,RNU6-408P,MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,MIR3975,NRBF2P1,MIR187,MIR3929,PCAT18,AQP4,LINC01908,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,KCTD1,AQP4-AS1,CHST9,CDH2,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,MAPRE2,ZNF397,ZSCAN30,RPRD1A,ELP2,KIAA1328,CELF4,DSG3,DTNA,GALNT1,FHOD3
Controls
No Control Data Available
No Animal Model Data Available