8q13.1-q13.2CNV Type: Duplication
Largest CNV size: 200000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Maternally-inherited duplication identified in a male patient with Autism, abnormal speech, and abnormal cognitive development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Duplication
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
wisniowiecka-kowalnik_12_ASD_discovery_cases
ASD patients from 132 simplex and 13 multiplex families of Polish descent
145
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Range, 3-26 yrs.
84.83% Male
200000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
wisniowiecka-kowalnik_12_ASD_discovery_cases
Polish
aCGH
OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
BCM web-based software, custom-designed IMiD-web2py 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
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient8
7
M
Autism
Autism, abnormal speech, and abnormal cognitive development
66920021
67148319
228299
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient8
FISH
Maternal
Unknown
Unknown
SNHG6,SNORD87,RNA5SP268,MCMDC2,TCF24,COPS5,PPP1R42,CSPP1
Controls
No Control Data Available
No Animal Model Data Available