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Xp22.33-p22.32CNV Type: Duplication


Largest CNV size: 5700000 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 98000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 864518
 0
 1
 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
 
 
 3426054
 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
 5796609
 0
 2
 2
 willemsen_12_DD/ID_discovery_cases
 Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
 4407
 Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
 2/3 of cases: age range of 1-18 yrs.
 54.5% Male
 5700000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 720877
 0
 1
 1
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 3426054
 NA
 NA
 NA
 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
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 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
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_301187
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 CNV locus reported as Xp22.33 in original report
 
 1116864
 11296672
  10179809
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3272_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 3774706
 4639224
  864519
 GRCh38
 Duplication
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case61119
 9.5 mos.
 F
 Developmental delay
 Motor delay. Behavioral problems: NA. Normal tone. Dysmorphic features: brachycephaly, midface hypoplasia, downturned mouth, low-set ears, long and tapered fingers, abnormal thumb. Congenital anomalies: scoliosis, unilateral renal agenesis. Growth parameters: weight <3rd %ile, height 3rd-10th %ile, OFC 25th-50th %ile. Family history: not specific (adopted).
 NA
 1062816
 4441564
  3378749
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001619
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 270446
 5995681
  5725236
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004018
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 40904
 4469489
  4428586
 GRCh38
 Duplication
 Yes
  willemsen_12_DD/ID_discovery_cases-case34
 
 F
 Intellectual disability
 Intellectual disability
 Intellectual disability
 283333
 5901959
  5618627
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB749532_1007845879
  N/A
  N/A
  Control
  No previous psychiatric history
 
  4224219
  4945096
  720878
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_301187
 
 
 Maternal
 
 
 MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,STS,MID1,ARHGAP6
 
 engchuan_15_ASD_discovery_cases-case3272_4
 
 
 Unknown
 
 
 
 
 girirajan_12_ASD/DD/ID_discovery_cases-case61119
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001619
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004018
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX
 
 willemsen_12_DD/ID_discovery_cases-case34
 
 
 Unknown (not tested)
 
 
 LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB749532_1007845879
 
 
  Unknown
 
 
 
 

No Animal Model Data Available
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