Xp11.23-p11.22CNV Type: Duplication
Largest CNV size: 4647891 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
4446955
0
1
1
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
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
4239311
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
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
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
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
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
chaves_24_ASD/DD/ID_discovery_cases-case862
F
Intellectual disability and learning disability
Facial dysmorphism, camptodactyly, nasal voice, a finger-like thumb.
Intellectual disability, specific learning disability
48365028
52811982
4446955
GRCh38
Duplication
No
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
streata_22_ASD/DD/ID_discovery_cases-case129
NA
F
Intellectual disability
Mild/moderate intellectual disability
48344665
52583975
4239311
GRCh38
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
chaves_24_ASD/DD/ID_discovery_cases-case862
Unknown
CACNA1F,CLCN5,GAGE2E,PCSK1N,GPKOW,FOXP3,CCDC22,NUDT11,OTUD5,SHROOM4,GRIPAP1,WDR13,MAGIX,PORCN,MAGED4B,PPP1R3F,CCDC120,CCNB3,SLC38A5,DGKK,SALL1P1,XAGE5,NUDT10,USP27X-DT,GATA1,ERAS,GAGE1,SSX8P,SSX7,SSXP5,SSXP4,EZHIP,H3P44,MRPL32P1,CENPVL3,GLOD5,USP27X,CENPVL1,MIR188,CENPVL2,MIR500A,SSX4B,MIR362,MIR502,MIR501,SPANXN5,PYY3,RBM22P6,HMGB1P15,GAGE13,GAGE12G,UQCR10P1,HSPB1P2,MIR532,MIR660,XAGE1B,SSX2B,XAGE1A,MAGED4,GAGE2A,GAGE12F,GAGE12H,GAGE12C,SNORA11D,GAGE12E,GAGE12B,GAGE12J,IPO7P1,TPMTP3,TBC1D25,PRICKLE3,KCND1,GAGE12D,VN1R110P,CPSF1P2,MIR500B,RNA5SP504,SYP-AS1,SSXP1,LINC01284,SNORA11E,PLP2,RBM3,LINC01496,MIR8088,GAGE10,RBM22P7,RN7SL262P,SLC35A2,SYP,SSX2,SSX4,SUV39H1,WAS,TFE3,RNU6-935P,RNU6-722P,RNU6-504P,RNU4-52P,RNU6-421P,RNU6-1056P,RNU6-29P,S100A11P8,S100A11P10,AKAP4,PAGE1,HDAC6,XAGE2,PQBP1,PAGE4,VDAC1P2,BMP15,MAGED1,PRAF2,TIMM17B,PIM2,EBP,WDR45,FTSJ1,GSPT2
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
streata_22_ASD/DD/ID_discovery_cases-case129
Unknown
CACNA1F,CLCN5,GAGE2E,PCSK1N,GPKOW,FOXP3,CCDC22,NUDT11,OTUD5,SHROOM4,GRIPAP1,WDR13,MAGIX,PORCN,MAGED4B,PPP1R3F,CCDC120,CCNB3,SLC38A5,DGKK,SALL1P1,NUDT10,USP27X-DT,GATA1,ERAS,GAGE1,EZHIP,H3P44,MRPL32P1,CENPVL3,GLOD5,USP27X,CENPVL1,MIR188,CENPVL2,MIR500A,SSX4B,MIR362,MIR502,MIR501,PYY3,RBM22P6,HMGB1P15,GAGE13,GAGE12G,UQCR10P1,HSPB1P2,MIR532,MIR660,XAGE1B,XAGE1A,MAGED4,GAGE2A,GAGE12F,GAGE12H,GAGE12C,SNORA11D,GAGE12E,GAGE12B,GAGE12J,IPO7P1,TPMTP3,TBC1D25,PRICKLE3,KCND1,GAGE12D,VN1R110P,CPSF1P2,MIR500B,SYP-AS1,LINC01284,SNORA11E,PLP2,RBM3,LINC01496,MIR8088,GAGE10,RBM22P7,RN7SL262P,SLC35A2,SYP,SSX4,SUV39H1,WAS,TFE3,RNU6-935P,RNU6-722P,RNU6-504P,RNU4-52P,RNU6-421P,RNU6-1056P,RNU6-29P,AKAP4,PAGE1,HDAC6,XAGE2,PQBP1,PAGE4,VDAC1P2,BMP15,MAGED1,SSX3,PRAF2,TIMM17B,PIM2,EBP,WDR45,FTSJ1,GSPT2
Controls
No Control Data Available
No Animal Model Data Available