13q33.3-qterCNV Type: Deletion
Largest CNV size: 5720171 bp
Statistics Box:
Number of Reports: 1
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
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
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
107707481
113425685
5718205
GRCh38
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
RNA5SP39,HCFC2P1,MYO16-AS2,LINC01067,LINC00399,LINC00676,RN7SKP10,LINC00396,RN7SL783P,MIR8073,COL4A2-AS1,RPL21P107,LINC00567,LINC00346,ANKRD10-IT1,PARP1P1,ARHGEF7-AS2,ARHGEF7-AS1,LINC00354,SOX1,LINC00404,SOX1-OT,LINC01043,F10-AS1,MIR8075,LDHBP1,FAM155A-IT1,LIG4,ABHD13,LINC00370,IRS2,COL4A2-AS2,RAB20,CARS2,ING1,LINC00431,LINC00368,ARHGEF7-IT1,TEX29,LINC02337,SPACA7,TUBGCP3,ATP11AUN,ATP11A-AS1,MCF2L-AS1,F10,KARSP2,PROZ,PCID2,LAMP1,GRTP1,GRTP1-AS1,ADPRHL1,FAM155A,TNFSF13B,MYO16-AS1,COL4A1,COL4A2,NAXD,ANKRD10,LINC01044,ATP11A,MCF2L,F7,ARHGEF7,LINC01070,CUL4A,MYO16
Controls
No Control Data Available
No Animal Model Data Available