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13q12.3-q13.2CNV Type: Deletion


Largest CNV size: 4756988 bp

Statistics Box:
Number of Reports: 2



Summary Information

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

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 3264689
 1
 0
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 4756988
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 4756988
 NA
 NA
 NA

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs ACGH (SignatureChipoWG; n=9207) or oligoarray (SignatureChipOS; n=23,380)
 
 
 FISH, aCGH, or confirmation by inheritance

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002250
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30636184
 33900873
  3264689
 NCBI36
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case36941
 9 yrs.
 M
 Developmental delay
 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.
 Global developmental delay
 29128098
 33885086
  4756988
 hg18
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002250
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 B3GALTL,RXFP2,FRY,ZAR1L,BRCA2,N4BP2L1,N4BP2L2,PDS5B,KL,STARD13,RFC3
 
 girirajan_12_ASD/DD/ID_discovery_cases-case36941
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 UBL3,KATNAL1,HMGB1,USPL1,ALOX5AP,MEDAG,TEX26,HSPH1,B3GALTL,RXFP2,FRY,ZAR1L,BRCA2,N4BP2L1,N4BP2L2,PDS5B,KL,STARD13,RFC3
 

Controls

No Control Data Available
No Animal Model Data Available
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