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

13q32.3-q33.3

Type
Duplication
Average Length
9112313
Range
100465760-109578072
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

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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13q32.3-q33.3

Description:

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.

Diagnosis:

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
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
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wolfe_16_ID_discovery_cases-DECIPHER327125

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: 100465760
CNV End: 109578072
CNV Size: 9112313
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: 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
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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