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22q12.3-q13.1CNV Type: Deletion


Largest CNV size: 2900000 bp

Statistics Box:
Number of Reports: 4


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...
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 2804219
 0
 2
 2
 chaves_24_ASD/DD/ID_discovery_cases
  NA NA
 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
 2804219
 0
 2
 2
 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
 3566142
 3
 2
 5
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 2900000
 1
 0
 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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 chaves_24_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 
 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
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 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
 

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_19_ASD/DD/ID_discovery_cases-case443
  NA NA
 N/A
 M
 ASD and developmental delay
 Low weight, short stature, developmental delay, speech and/or language delay or impairment, autism, behavioral disorder, facial dysmorphism and mongolian stains
 
 35492541
 38296759
  2804219
 GRCh38
 Triplication
 No
  chaves_24_ASD/DD/ID_discovery_cases-case443
  NA NA
 
 M
 ASD and developmental delay
 Low weight, short stature, developmental delay, ASD, behavioral disorder, dysmorphic features, and mongolian spots.
 Specific learning disability.
 35492541
 38296759
  2804219
 GRCh38
 Triplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001077
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 37124249
 37580757
  456509
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003878
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 36552376
 37669915
  1117540
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004111
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 36068124
 38002382
  1934259
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004360
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 36859030
 39236985
  2377956
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005222
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 35333993
 38900177
  3566185
 GRCh38
 Deletion
 Yes
  tzetis_12_DD/ID_discovery_cases-case53
 
 F
 DD/ID
 Nystagmus, myopia, hypotonia , growth deficiency, peripheral neuropathy, sensorineural hearing impairment
 
 35885546
 38880715
  2995170
 GRCh38
 Deletion
 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_19_ASD/DD/ID_discovery_cases-case443
 
 
 Unknown
 
 
 MRPS16P3,APOL5,MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,CSF2RBP1,RN7SKP214,LGALS2,RN7SL385P,LGALS1,H1-0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,RN7SL704P,RASD2,MB,NDUFA9P1,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,ELFN2,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MAFF,TMEM184B,CSNK1E,TPTEP2-CSNK1E,RBFOX2,MTCYBP34,MYH9,TMPRSS6,GGA1,EIF3L,POLR2F,PLA2G6,APOL6,CACNG2,TRIOBP
 
 chaves_24_ASD/DD/ID_discovery_cases-case443
 
 
 Unknown
 
 
 CSNK1E,CSF2RB,CYTH4,CARD10,EIF3L,PDXP,NOL12,KCTD17,APOL6,BAIAP2L2,APOL5,APOL3,APOL4,FOXRED2,C22orf23,MICALL1,ELFN2,C1QTNF6,ANKRD54,TMPRSS6,IL2RB,H1-0,NDUFA9P1,TEX33,MRPS16P3,MIR658,MIR659,MPST,NCF4,MFNG,LGALS2,MB,MYH9,LGALS1,RPS15AP38,MIR4534,MTND1P10,PDXP-DT,POLR2F,PVALB,RAC2,MIR6820,MIR6819,TPTEP2-CSNK1E,SOX10,TST,SSTR3,RN7SL704P,RN7SKP214,RNU6-900P,MTCO3P20,MTCO2P20,RN7SL385P,MTATP6P20,MTCO1P20,NCF4-AS1,MTCYBP34,GALR3,PLA2G6,APOL1,EIF3D,PICK1,IFT27,TRIOBP,CDC42EP1,CACNG2,MAFF,GGA1,APOL2,GCAT,TMEM184B,SH3BP1,TXN2,RASD2,SLC16A8,RBFOX2,CSF2RBP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001077
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LGALS2,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,ELFN2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003878
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CSF2RBP1,LL22NC01-81G9.3,RN7SKP214,LGALS2,RN7SL385P,IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,TMPRSS6,ELFN2,GGA1,CACNG2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004111
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,CSF2RBP1,LL22NC01-81G9.3,RN7SKP214,LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,MTCYBP34,MYH9,TMPRSS6,ELFN2,GGA1,EIF3L,POLR2F,CACNG2,TRIOBP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004360
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CSF2RBP1,LL22NC01-81G9.3,RN7SKP214,LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,RN7SL704P,RPS29P31,PRDX3P1,APOBEC3B,APOBEC3C,APOBEC3G,APOBEC3H,COX5BP7,FUNDC2P4,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MAFF,CSNK1E,TPTEP2-CSNK1E,TPTEP2,KCNJ4,KDELR3,DDX17,FAM227A,TOMM22,JOSD1,GTPBP1,SUN2,DNAL4,NPTXR,CBX6,APOBEC3A,APOBEC3B-AS1,APOBEC3D,APOBEC3F,CBX7,PDGFB,TMPRSS6,ELFN2,GGA1,EIF3L,POLR2F,PLA2G6,TMEM184B,DMC1,CBY1,TRIOBP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005222
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR3909,MIR6069,MRPS16P3,APOL5,MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,CSF2RBP1,LL22NC01-81G9.3,RN7SKP214,LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,RN7SL704P,RPS29P31,PRDX3P1,TOM1,MCM5,RASD2,MB,NDUFA9P1,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MAFF,CSNK1E,TPTEP2-CSNK1E,TPTEP2,KCNJ4,KDELR3,DDX17,FAM227A,TOMM22,JOSD1,GTPBP1,SUN2,DNAL4,NPTXR,CBX6,HMOX1,RBFOX2,MTCYBP34,MYH9,TMPRSS6,ELFN2,GGA1,EIF3L,POLR2F,PLA2G6,TMEM184B,DMC1,CBY1,APOL6,CACNG2,TRIOBP
 
 tzetis_12_DD/ID_discovery_cases-case53
 
 
 Unknown
 Unknown
 
 MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,CSF2RBP1,LL22NC01-81G9.3,RN7SKP214,LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,RN7SL704P,RPS29P31,PRDX3P1,NDUFA9P1,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MAFF,CSNK1E,TPTEP2-CSNK1E,TPTEP2,KCNJ4,KDELR3,DDX17,FAM227A,TOMM22,JOSD1,GTPBP1,SUN2,DNAL4,NPTXR,CBX6,RBFOX2,MTCYBP34,MYH9,TMPRSS6,ELFN2,GGA1,EIF3L,POLR2F,PLA2G6,TMEM184B,DMC1,CBY1,CACNG2,TRIOBP
 

Controls

No Control Data Available
No Animal Model Data Available
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