Copy Number Variants / 13q33.3-qter

13q33.3-qter

Type
Deletion
Average Length
5720171
Range
108359829-114080000
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

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

Reports related to 13q33.3-qter (1 Reports)
# Type Title Author, Year
1 Minor Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Iourov IY , et al. (2013)
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13q33.3-qter

Description:

Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012

Diagnosis:

Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies

Iourov IY , et al. (2013)
Cohort Size: 54

Age Min: 3
Age Max: 3
Average: 3

Male: -
Female: -
Unknown: 100
CNV Size: 5720171

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

iourov_12_ASD/ID/EP_discovery_cases-case15

Clinical Profile:

Corpus callosum agenesis, congenital heart defect, microcephaly, pulmonary hypoplasia, facial dysmorphisms

Cognitive Profile:

Developmental and cognitive delay

Iourov IY , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 3 mos.

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 108359829
CNV End: 114080000
CNV Size: 5720171
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: 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
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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