Copy Number Variants / 13q32.2-q33.1

13q32.2-q33.1

Type
Deletion
Average Length
200000
Range
100477931-100637276
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

Summary statement in development

Reports related to 13q32.2-q33.1 (1 Reports)
# Type Title Author, Year
1 Major Phenomic determinants of genomic variation in autism spectrum disorders. Qiao Y , et al. (2009)
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13q32.2-q33.1

Description:

Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via ≥2nd degree relationship)

Diagnosis:

ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards

Qiao Y , et al. (2009)
Cohort Size: 100

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 200000

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
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qiao_09_ASD_discovery_cases-case11

Clinical Profile:

Phenotype Score: 8. Epilepsy. Growth parameters: Prenatal and postnatal growth retardation, macrocephaly (OFC >98th %ile). Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies.

Cognitive Profile:

Severe intellectual disability (IQ between 20 & 35)

Qiao Y , et al. (2009)
Primary Diagnosis: Autism

Age: Range, 2-5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 100477931
CNV End: 100637276
CNV Size: 200000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: -
Gene Content: -
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No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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