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13q33.3-qterCNV Type: Deletion


Largest CNV size: 5720171 bp

Statistics Box:
Number of Reports: 1



Summary Information

Deletion identified in a 3-month-old Russian patient with multiple congenital anomalies and developmental delay (Iourov et al., 2012).

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 5720171
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  iourov_12_ASD/ID/EP_discovery_cases-case15
 3 mos.
 NA
 Developmental delay
 Corpus callosum agenesis, congenital heart defect, microcephaly, pulmonary hypoplasia, facial dysmorphisms
 Developmental and cognitive delay
 108359829
 114080000
  5720171
 GRCh37/hg19
 Deletion
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 iourov_12_ASD/ID/EP_discovery_cases-case15
 
 
 Unknown
 Unknown
 Unknown
 FAM155A,LIG4,ABHD13,TNFSF13B,MYO16,IRS2,COL4A1,COL4A2,RAB20,CARKD,CARS2,ING1,ANKRD10,ARHGEF7,TEX29,SOX1,SPACA7,TUBGCP3,C13orf35,ATP11A,MCF2L,F7,F10,PROZ,PCID2,CUL4A,LAMP1,GRTP1,ADPRHL1
 

Controls

No Control Data Available
No Animal Model Data Available
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