20q11.22-q11.23CNV Type: Deletion
Largest CNV size: NA bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Neither the size nor the precise breakpoints of this deletion, observed in an autistic female with intellectual disability and other phenotypes, were provided in the original report; as such, the exact gene content of this deletion is unknown.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
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
schaefer_10_ASD_discovery_cases
Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
68
Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
NA
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
schaefer_10_ASD_discovery_cases
aCGH
Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
GenePix Pro 6.0, SpectralWare CGH analysis software
FISH
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
schaefer_10_ASD_discovery_cases-case8
NA
F
Autism
Complex (syndromic) autism. Developmental and speech delays, hypotonia, self-injurious behavior, hand-washing behaviors. Esotropia, significant ptosis.
Mental retardation
NA
NA
NA
Unknown
Deletion
Yes
Controls
No Control Data Available
No Animal Model Data Available