Copy Number Variants / 13q32.3-q33.3


Average Length
Associated Human Genes
Associated Animal Models
Autism Reports
1 (1 case / 0 control)
1 (1 case / 0 control)

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).

Reports related to 13q32.3-q33.3 (1 Reports)
# Type Title Author, Year
1 Major Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. Wolfe K , et al. (2016)
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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.


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).

Wolfe K , et al. (2016)
Cohort Size: 202

Age Min: 252
Age Max: 252
Average: 252

Male: 100
Female: -
Unknown: -
CNV Size: 9112313

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:


Validation Method:


Platform: Nimblegen 135K
Software: -
Algorithm: -
Geographical Ancestry: 74% White British
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Clinical Profile:

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).

Cognitive Profile:

Mild intellectual disability

Wolfe K , et al. (2016)
Primary Diagnosis: Intellectual disability, ASD, and ADHD

Age: 21 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 99813506
CNV End: 108925724
CNV Size: 9112313
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: 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, LINC00460, RPL35P9, ATP5G1P5, PPIAP24, SNORD31B, MIR1267, RNA5SP39, HCFC2P1, PCCA-AS1, LINC00411, CCDC168, LINC00283, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA-AS1, DAOA, LINC00343, EFNB2, LINC00551, LINC00443, FAM155A-IT1, LIG4, ABHD13, PCCA, GGACT, NALCN-AS1, NALCN, FGF14-IT1, TPP2, METTL21EP, ARGLU1, FAM155A, TNFSF13B, CLYBL, ITGBL1, FGF14, TMTC4, MYO16
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No control populations reported.

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No control individuals reported.

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