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13q32.3-q33.3CNV Type: Duplication


Largest CNV size: 9112313 bp

Statistics Box:
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

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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

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 wolfe_16_ID_discovery_cases
  74% White British
 aCGH
  Nimblegen 135K
 
 
 qPCR, FISH, or QF-PCR

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
 100465760
 109578072
  9112313
 GRCh37/hg19
 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
 CLYBL,ZIC5,ZIC2,PCCA,GGACT,TMTC4,NALCN,ITGBL1,FGF14,TPP2,METTL21C,CCDC168,TEX30,KDELC1,BIVM,BIVM-ERCC5,ERCC5,SLC10A2,DAOA,EFNB2,ARGLU1,FAM155A,LIG4,ABHD13,TNFSF13B,MYO16
 

Controls

No Control Data Available
No Animal Model Data Available
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