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Xp22.33-p22.11CNV Type: Deletion


Largest CNV size: 22841407 bp

Statistics Box:
Number of Reports: 2



Summary Information

Rare singleton deletion 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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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...
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication

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
 22841407
 1
 0
 1
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 22464706
 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
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A

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
 
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A

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-ISCA00001947
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 253129
 23023165
  22770037
 GRCh38
 Deletion
 Yes
  kushima_18_ASD_discovery_cases-caseASD0407
 17 yrs.
 M
 ASD, ID, epilepsy/seizures
 Developmental milestones: language delay, motor delay. Behavioral/psychiatric evaluation: self-mutilation. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Family history: negative.
 Intellectual disability (IQ < 70)
 10000
 22474705
  22464706
 GRCh38
 Duplication
 N/A

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-ISCA00001947
 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,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,MIR548AX,FRMPD4-AS1,RPL17P49,RN7SKP290,PSMA6P2,TLR8-AS1,GS1-600G8.3,GPX1P1,RPL30P15,MIR6086,RN7SKP20,NPM1P9,TPT1P14,INE2,RNU5F-7P,SETP15,RPL6P30,RN7SL658P,MIR548AM,S100G,RNU7-56P,RPL12P49,RNU4-6P,CBX1P2,CBX1P4,MIR4768,NHS-AS1,TMSB10P2,GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,MIR23C,EIF1AX-AS1,RN7SKP183,RNU6-133P,RARRES2P3,KLHL34,CBLL2,METTL15P3,RNU6-266P,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,MSL3,PRPS2,TLR7,TLR8,FAM9C,LINC02154,ATXN3L,TCEANC,RAB9A,TRAPPC2,FANCB,MOSPD2,ASB9,ASB11,VEGFD,GS1-594A7.3,CLTRN,CA5BP1,ZRSR2,AP1S2,GRPR,MAGEB17,SYAP1,TXLNG,RBBP7,SCML1,RS1,PHKA2-AS1,PHKA2,PDHA1,EIF5P2,EIF1AX,MBTPS2,YY2,SMS,PHEX-AS1,DDX53,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,MRPL35P4,TMSB4X,LINC01203,OFD1,GPM6B,GEMIN8,PIGA,PIR,BMX,ACE2,CTPS2,REPS2,NHS,LINC01456,BEND2,SCML2,CDKL5,PPEF1,ADGRG2,MAP3K15,SH3KBP1,MAP7D2,RPS6KA3,CNKSR2,SMPX,PHEX,STS,MID1,ARHGAP6,FRMPD4,EGFL6,GLRA2,CA5B,RAI2,BCLAF3,PTCHD1-AS
 
 kushima_18_ASD_discovery_cases-caseASD0407
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 De novo
 Simplex
 Segregated
 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,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,MIR548AX,FRMPD4-AS1,RPL17P49,RN7SKP290,PSMA6P2,TLR8-AS1,GS1-600G8.3,GPX1P1,RPL30P15,MIR6086,RN7SKP20,NPM1P9,TPT1P14,INE2,RNU5F-7P,SETP15,RPL6P30,RN7SL658P,MIR548AM,S100G,RNU7-56P,RPL12P49,RNU4-6P,CBX1P2,CBX1P4,MIR4768,NHS-AS1,TMSB10P2,GJA6P,PPEF1-AS1,HAUS1P2,RN7SL48P,MIR23C,EIF1AX-AS1,RN7SKP183,RNU6-133P,RARRES2P3,KLHL34,CBLL2,METTL15P3,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,MSL3,PRPS2,TLR7,TLR8,FAM9C,LINC02154,ATXN3L,TCEANC,RAB9A,TRAPPC2,FANCB,MOSPD2,ASB9,ASB11,VEGFD,GS1-594A7.3,CLTRN,CA5BP1,ZRSR2,AP1S2,GRPR,MAGEB17,SYAP1,TXLNG,RBBP7,SCML1,RS1,PHKA2-AS1,PHKA2,PDHA1,EIF5P2,EIF1AX,MBTPS2,YY2,SMS,PHEX-AS1,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,MRPL35P4,TMSB4X,LINC01203,OFD1,GPM6B,GEMIN8,PIGA,PIR,BMX,ACE2,CTPS2,REPS2,NHS,LINC01456,BEND2,SCML2,CDKL5,PPEF1,ADGRG2,MAP3K15,SH3KBP1,MAP7D2,RPS6KA3,CNKSR2,SMPX,PHEX,STS,MID1,ARHGAP6,FRMPD4,EGFL6,GLRA2,CA5B,RAI2,BCLAF3,PTCHD1-AS
 

Controls

No Control Data Available
No Animal Model Data Available
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