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Xp22.11-p21.3CNV Type: Duplication


Largest CNV size: 289236 bp

Statistics Box:
Number of Reports: 2



Summary Information

Rare singleton duplication within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).

Additional Locus Information

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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...
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication

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
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 3350473
 0
 1
 1
 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
 289236
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 qPCR
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  egger_14_ASD_discovery_cases-caseA150
 24 yrs. (born 1990)
 M
 ASD
 Diagnosis: atypical autism. Co-morbidities/additional features: absence epilepsy. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 Normal IQ
 24585941
 27936413
  3350473
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000948
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 24715187
 25004423
  289237
 GRCh38
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 egger_14_ASD_discovery_cases-caseA150
 qPCR
 
 De novo
 
 Possibly segregated
 SCARNA23,ARX,RN7SL91P,RPP40P1,MAGEB18,MAGEB6B,MAGEB6,MAGEB5,RPL7P58,HMGA1P1,RNU1-142P,PTP4A1P5,PPP4R3C,PCYT1B-AS1,EEF1B2P3,VENTXP1,MAGEB10,PCYT1B,POLA1,DCAF8L2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000948
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SCARNA23,ARX,EEF1B2P3,POLA1
 

Controls

No Control Data Available
No Animal Model Data Available
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