18q22.3-qterCNV Type: Deletion
Largest CNV size: 5500000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion encompassing this region was identified in a 17-year-old female patient presenting with microcephaly, dysmorphism, and learning disability (Roberts et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
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
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
5500000
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
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase22
17 yrs.
F
Learning disability (developmental delay/intellectual disability)
Microcephaly, dysmorphism
74755944
80258298
5502355
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
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase22
BACs aCGH or FISH
Unknown
Unknown
Unknown
LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,LINC00908,CTDP1
Controls
No Control Data Available
No Animal Model Data Available