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Xp11.23-p11.22CNV Type: Duplication


Largest CNV size: 4647891 bp

Statistics Box:
Number of Reports: 5



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Autism in two females with duplications involving Xp11.22-p11.23.
Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 4647891
 0
 1
 1
 edens_11_ASD_discovery_cases
 Two female ASD probands with medically refractory epilepsy and severe intellectual disability (ID)
 2
 ASD. Diagnosis based on Modified Checklist for Autism in Spanish & Autism Diagnostic Interview-Revised (ADI-R) (n=1), or Autism Diagnostic Observation Schedule (ADOS) & Social Communication Questionnaire (n=1)
 Range, 3-14 yrs.
 0% Male
 5000000
 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
 5231540
 0
 2
 2
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 4643367
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 4539290
 0
 1
 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
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 4539290
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 qPCR
 edens_11_ASD_discovery_cases
  1 Honduran/Hispanic, 1 Austrian/European
 CMA
  N/A
 
 
 FISH
 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
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 48428462
 52773886
  4345425
 GRCh38
 Duplication
 Yes
  edens_11_ASD_discovery_cases-case2
 3 yrs.
 F
 ASD
 Diagnosis of autism at 3 yrs (criteria included Social Communication Questionnaire and ADOS scores). Abnormalities in sensory integration, social interactions, communication, and behavior. Developmental Profile II, Cognitive Aptitude Test, & Clinical Linguistic & Auditory Milestone Scale: at or below developmental quotient of 42 (range 29-42). Developmental milestones: sat at 11 mos., crawled at 15 mos., walked at 34 mos. Non-verbal. Epilepsy (generalized tonic-clonic seizures started at 6 mos.). Neurological characteristics: mild generalized hypotonia. Normal brain CT and MRI at 6 mos.. EEG: normal at 6 mos., right temporal-occipital slowing with sharp & spike-wave discharges at 2 yrs. Other: no cranial nerve, cerebellar, motor, or sensory deficits. Dysmorphic features: cupped ears with normal position, hooded appearance to the eyes, thick eyebrows, synophrys, long eyelashes, tubular nose, widely spaced teeth, prominent maxilla, thin upper lip. Growth parameters: height, 90.1 cm (3rd %ile); weight, 15.2 kg (50th %ile); head circumference, 46.2 cm (<3rd %ile).
 Severe intellectual disability (ID)
 NA
 NA
  5000000
 Unknown
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002487
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 47859417
 52789530
  4930114
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004347
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 48344666
 52664916
  4320251
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0306-004
 NA
 F
 ASD
 RL/EL mild delay, moderate unintelligibility, moderate repetitive behavior, severe dysmorphism, severe hypotonia
 IQ/LOF 68
 48458960
 52804921
  4345962
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case78681
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 48171540
 52710829
  4539290
 Unknown
 Duplication
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chung_11_ASD_discovery_cases-proband
 qPCR
 
 De novo
 Simplex
 NA
 EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,PPP1R3F,CCNB3
 
 edens_11_ASD_discovery_cases-case2
 FISH
 
 Unknown
 Simplex
 Unknown
 NA
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002487
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ZNF630-AS1,SPACA5B,RNU6-707P,SSXP3,SSX5,RNA5SP503,SSXP9,SSX4,SSX4B,EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,ZNF182,ZNF630,SPACA5,SSX6P,SSX1,SSX9P,SSX3,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,ZNF81,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,PPP1R3F,CCNB3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004347
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SSX4,SSX4B,EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,SSX3,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,PPP1R3F,CCNB3
 
 marshall_08_ASD_discovery_cases-SK0306-004
 qPCR, qmPCR
 
 De novo
 Simplex
 NA
 EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,PPP1R3F,CCNB3
 
 prasad_12_ASD_discovery_cases-case78681
 
 
 Unknown
 Unknown
 Unknown
 SSX7,SSX8,ERAS,PPP1R3F,GAGE1,WAS,XAGE2B,GAGE5,GAGE4,CACNA1F,GAGE6,GATA1,NUDT10,SLC38A5,TFE3,PORCN,GAGE2D,GAGE2E,GAGE2A,GAGE2B,GAGE2C,GAGE12J,MAGIX,AKAP4,MAGED1,MAGED4,PQBP1,LOC347376,FOXP3,XAGE1D,PAGE4,PAGE1,WDR45,CCDC120,FTSJ1,SYP,TBC1D25,MIR532,GSPT2,GAGE8,GLOD5,XAGE2,HDAC6,OTUD5,PRAF2,SHROOM4,PLP2,GPKOW,MIR500A,MIR500B,LOC158572,CENPVL1,LOC441495,MIR188,GAGE12H,GAGE12I,MIR660,GRIPAP1,GAGE12B,GAGE12C,GAGE12D,GAGE12E,GAGE12F,GAGE12G,MIR502,MIR501,WDR13,RBM3,CCDC22,BMP15,TIMM17B,PRICKLE3,DGKK,KCND1,XAGE1A,XAGE1B,XAGE1C,PIM2,XAGE1E,SUV39H1,USP27X,SLC35A2,CLCN5,GAGE7,CCNB3,MIR362,PCSK1N,SNORA11E,SNORA11D,GAGE10,GAGE13,NUDT11,EBP,MAGED4B
 

Controls

No Control Data Available
No Animal Model Data Available
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