13q32.3-q33.3CNV Type: Duplication
Largest CNV size: 9112313 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication of unknown origin in the 13q32.3-q33.3 region was observed in a 21-year-old patient presenting with intellectual disability, ASD, and ADHD as part of a screen of adult cases with intellectual disability (Wolfe et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric 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
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
9112313
0
1
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
wolfe_16_ID_discovery_cases-DECIPHER327125
21 yrs.
M
Intellectual disability, ASD, and ADHD
Psychiatric history: autistic spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), on forensic in-patient section. Mini PAS-ADD evaluation: none met. BPI-S evaluation: any self-injurious, aggressive/destructive, or stereotyped behaviors occur less than weekly. Medical history: epilepsy, shuffling gait, bradykinesia. Dysmorphic features: low set ears, abnormality of the hand. Growth parameters: height 167 cm, head circumference 59 cm. Ethnicity: white (British).
Mild intellectual disability
99813506
108925724
9112219
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
wolfe_16_ID_discovery_cases-DECIPHER327125
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
ZIC5,ZIC2,LINC00554,NDUFA12P1,ASNSP3,RPL15P18,RPS26P47,COX5BP6,ARF4P3,RNU1-24P,HMGB3P7,MIR2681,LIPT1P1,RNY1P2,MIR4705,RPL39P29,FGF14-AS1,FGF14-AS2,LINC00555,METTL21C,TEX30,LINC01309,ATP6V1G1P7,RPL7P45,RNA5SP38,RPL35P9,ATP5MC1P5,PPIAP24,SNORD31B,MIR1267,RNA5SP39,HCFC2P1,PCCA-AS1,LINC00411,CCDC168,LINC00283,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA-AS1,DAOA,LINC00343,LINC00460,EFNB2,LINC00551,LINC00443,FAM155A-IT1,LIG4,ABHD13,PCCA,GGACT,NALCN-AS1,NALCN,FGF14-IT1,TPP2,METTL21EP,ARGLU1,FAM155A,TNFSF13B,CLYBL,ITGBL1,FGF14,TMTC4,MYO16
Controls
No Control Data Available
No Animal Model Data Available