Copy Number Variants / 13q12.3-q13.2

13q12.3-q13.2

Type
Deletion
Average Length
4010838
Range
29128098-33885086
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
2
Populations
2 (2 case / 0 control)
Individuals
2 (2 case / 0 control)
Summary

Deletion identified in a male patient with global developmental delay, microcephaly, behavioral issues, and dysmorphic features (Girirajan et al., 2012)

Reports related to 13q12.3-q13.2 (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 Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
Show all Case Details Show all Cohort Details

13q12.3-q13.2

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: 3264689

Deletion: 1
Duplication: 0

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

13q12.3-q13.2

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

Girirajan S , et al. (2012)
Cohort Size: 32587

Age Min: 108
Age Max: 108
Average: 108

Male: 100
Female: -
Unknown: -
CNV Size: 4756988

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

girirajan_12_ASD/DD/ID_discovery_cases-case36941

Clinical Profile:

Failure to thrive, microcephaly. Behavioral problems: anger management issues. Normal tone. Unilateral hearing loss. Dysmorphic features: upslanting palpebral fissures, pointed chin, large ears, midface hypoplasia, high palate, underbite. Family history: mother has cleft lip/palate, unilateral hearing loss, learning disability, and mild dysmorphisms.

Cognitive Profile:

Global developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 9 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29128098
CNV End: 33885086
CNV Size: 4756988
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: UBL3, KATNAL1, HMGB1, USPL1, ALOX5AP, MEDAG, TEX26, HSPH1, B3GALTL, RXFP2, FRY, ZAR1L, BRCA2, N4BP2L1, N4BP2L2, PDS5B, KL, STARD13, RFC3

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002250

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: 30636184
CNV End: 33900873
CNV Size: 3264689
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: B3GALTL, RXFP2, FRY, ZAR1L, BRCA2, N4BP2L1, N4BP2L2, PDS5B, KL, STARD13, RFC3
Show all Control Details Show all Cohort Details

13q12.3-q13.2

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: -

13q12.3-q13.2

Description:

Persons found to have no overt neurological disorders during screening for other studies

Diagnosis:

Control

Girirajan S , et al. (2012)
Cohort Size: 8329

Age Min: 108
Age Max: 108
Average: 108

Male: 100
Female: -
Unknown: -
CNV Size: 4756988

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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