Copy Number Variants / 13q21.33-q31.1

13q21.33-q31.1

Type
Duplication
Average Length
11068438
Range
70981345-81618221
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
2
Populations
2 (2 case / 0 control)
Individuals
2 (2 case / 0 control)
Summary

Rare singleton duplication within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).

Reports related to 13q21.33-q31.1 (2 Reports)
# Type Title Author, Year
1 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
2 Major Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... Battaglia A , et al. (2013)
Show all Case Details Show all Cohort Details

13q21.33-q31.1

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 10636876

Deletion: 0
Duplication: 1

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

13q21.33-q31.1

Description:

Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

Diagnosis:

34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

Battaglia A , et al. (2013)
Cohort Size: 349

Age Min: 54
Age Max: 54
Average: 54

Male: 100
Female: -
Unknown: -
CNV Size: 11500000

Deletion: 1
Duplication: 0

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

battaglia_13_DD/ID/ASD_discovery_cases-case29

Clinical Profile:

Autism: no. Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Mild DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 4 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 67762170
CNV End: 79276611
CNV Size: 11500000
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: hg18
Gene Content: KLHL1, DACH1, MZT1, BORA, DIS3, PIBF1, KLF5, KLF12, TBC1D4, COMMD6, UCHL3, LMO7, C13orf45, KCTD12, IRG1, CLN5, FBXL3, MYCBP2, SCEL, SLAIN1, EDNRB, POU4F1, RNF219, RBM26, NDFIP2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004814

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 70981345
CNV End: 81618221
CNV Size: 10636876
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: DACH1, MZT1, BORA, DIS3, PIBF1, KLF5, KLF12, TBC1D4, COMMD6, UCHL3, LMO7, C13orf45, KCTD12, IRG1, CLN5, FBXL3, MYCBP2, SCEL, SLAIN1, EDNRB, POU4F1, RNF219, RBM26, NDFIP2, SPRY2
Show all Control Details Show all Cohort Details

13q21.33-q31.1

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

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

Deletion: NA
Duplication: NA

Total CNV: NA
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

No control individuals reported.

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