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9p24.3-p22.1CNV Type: Duplication


Largest CNV size: 19000000 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
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication

Minor Reports

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

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 18000000
 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
 17714236
 1
 0
 1
 mohamed_21_DD/ID_discovery_cases
  NA NA
 Individuals referred to the National Research Centre (Cairo, Egypt) with chromsome 9p terminal deletions (initially identified by karyotyping) who had additional aCGH evaluation to identify the precise extent of the deletion.
 6
 All individuals presented with developmental delay and intellectual disability; four individuals also presented with autistic behavior.
 Range, 5 mos.-9 yrs.
 33.33% Male
 18717506
 2
 0
 2
 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)
 
 19000000
 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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 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
 mohamed_21_DD/ID_discovery_cases
  Egypt
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 NA
 Affymetrix ChAS
 None
 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
  battaglia_13_DD/ID/ASD_discovery_cases-case30
 4 yrs. 7 mos.
 M
 Borderline DD/ID
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Borderline DD/ID
 1157109
 19511585
  18354477
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1242978
 18957216
  17714239
 GRCh38
 Deletion
 Yes
  mohamed_21_DD/ID_discovery_cases-case2
  NA NA
 11 mos.
 F
 Developmental delay, intellectual disability, and autistic behavior
 Developmental milestones: developmental delay (DQ 20%), speech and language delay. Motor and musculoskeletal evaluation: global hypotonia, joint hyperlaxity, long tapering fingers/toes (fusi-form tapering fingers), narrow flat feet. Behavioral/psychiatric evaluation: autistic behavior. Brain imaging: left occipitoparietal area of hypodensity due to HIE. Additional medical history: absent clitoris and labia minora, constipation, frequent infections. Dysmorphic features: trigonocephaly/prominent metopic suture, flat occiput, arched/bushy eyebrows, hypertelorism, epicanthus, flat nasal bridge, anteverted nares, long flat philtrum, low-set and posteriorly rotated ears, microstomia, short neck, widely spaced nipples, fair hair, microcephaly. Growth parameters: weight -0.5 SD, height mean, head circumference -2.9 SD.
 Intellectual disability
 203860
 18921365
  18717506
 GRCh38
 Deletion
 No
  mohamed_21_DD/ID_discovery_cases-case3
  NA NA
 9 yrs.
 F
 Developmental delay and intellectual disability
 Developmental milestones: developmental delay, mild speech and language delay. Motor and musculoskeletal evaluation: global hypotonia, misaligned toes, clinodactyly, fusiform tapering fingers. Behavioral/psychiatric evaluation: negative for autistic behavior. Brain imaging: NA. Additonal medical history: inguinal hernia, umbilical hernia, frequent infections. Dysmorphic features: trigonocephaly/prominent metopic suture, flat occiput, upslanting palpebral fissures, arched/bushy eyebrows, hypertelorism, slightly flat nasal bridge, slightly anteverted nares, long flat philtrum, low-set and posteriorly-rotated ears, short neck, widely spaced nipples, microcephaly. Growth parameters: weight mean, height -2 SD, head circumference -3.1 SD.
 Intellectual disability
 208453
 18893257
  18684805
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case77
 
 F
 ASD
 Cranio-fronto-nasal-dysplasia, heart defects, camptodactyly, hypoplastic nails, ASD
 
 204193
 19213883
  19009691
 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
 battaglia_13_DD/ID/ASD_discovery_cases-case30
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,PES1P2,ATP5PDP3,CDCA4P1,CER1,RNU6-1260P,LDHAP4,RNU6-559P,RPL7P33,RNU6-319P,RN7SL98P,FTH1P12,RNU6-246P,HMGN2P16,RNU6-14P,BNC2-AS1,LSM1P1,RN7SL720P,RPS29P33,SAMM50P1,PABPC1P11,MIR3152,RN7SKP258,RAP1BP1,RRAGA,SCARNA8,RNU6-264P,RPS6,NDUFA5P3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,LINC00583,RPL3P11,SNAPC3,HAUS6,ACER2,MAP1LC3BP1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,NFIB,FREM1,CLCN3P1,TTC39B,PSIP1,C9orf92,CNTLN,SH3GL2,PLIN2,DENND4C,SLC24A2,SMARCA2,GLIS3,ZDHHC21,CCDC171,ADAMTSL1,SAXO1,PTPRD,BNC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005016
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,PES1P2,ATP5PDP3,CDCA4P1,CER1,RNU6-1260P,LDHAP4,RNU6-559P,RPL7P33,RNU6-319P,RN7SL98P,FTH1P12,RNU6-246P,HMGN2P16,RNU6-14P,BNC2-AS1,LSM1P1,RN7SL720P,RPS29P33,SAMM50P1,PABPC1P11,MIR3152,RN7SKP258,RAP1BP1,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,LINC00583,RPL3P11,SNAPC3,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,NFIB,FREM1,CLCN3P1,TTC39B,PSIP1,C9orf92,CNTLN,SH3GL2,SMARCA2,GLIS3,ZDHHC21,CCDC171,ADAMTSL1,SAXO1,PTPRD,BNC2
 
 mohamed_21_DD/ID_discovery_cases-case2
 
 
 Unknown
 
 
 MLANA,DMRT1,RANBP6,CD274,AK3,BNC2,SPATA6L,CNTLN,CDC37L1,PLGRKT,DMRT3,RIC1,ERMP1,DOCK8,PDCD1LG2,ADAMTSL1,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP3,ATP5PDP2,LDHAP4,CCDC171,DOCK8-AS1,KIAA2026,FREM1,KCNV2,SAXO1,RPL4P5,TTC39B,GLIS3,INSL4,IGHEP2,GLDC,FTH1P12,ZDHHC21,RPL7P33,LURAP1L,PSIP1P1,PES1P2,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,LINC01235,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,AKAP8P1,IMP3P1,HMGN2P16,JKAMPP1,LINC00583,TCF3P1,AK4P4,C9orf92,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,NFIB,GTF3AP1,RPL3P11,RNF2P1,RPL12P25,RPS27AP14,SAMM50P1,RNF152P1,ACTG1P14,CLCN3P1,ECM1P1,KLF4P1,CSNK1G2P1,CDCA4P1,PABPC1P11,MIR3152,EIF1P1,RAP1BP1,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,LSM1P1,RNU6-14P,RPS3AP54,PTPRD,RLN1,RN7SL5P,RFX3,RLN2,LURAP1L-AS1,CDC37L1-DT,LINC01231,PTPRD-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,RN7SL98P,SLC1A1,PRDX1P1,SMARCA2,SH3GL2,SNAPC3,TYRP1,VLDLR,RNU6-694P,RNU2-25P,RN7SL849P,RN7SL720P,MTND6P5,RNU2-47P,RN7SKP258,RNU6-319P,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-246P,RNU6-1073P,RNU6-1260P,RNU6-1327P,RNU6-559P,MTATP6P11,RPS29P33,BNC2-AS1,MPDZ,H3P29,CER1,RCL1,PUM3,PSIP1,DMRT2,INSL6,KDM4C,KANK1
 
 mohamed_21_DD/ID_discovery_cases-case3
 
 
 Unknown
 
 
 MLANA,DMRT1,RANBP6,CD274,AK3,BNC2,SPATA6L,CNTLN,CDC37L1,PLGRKT,DMRT3,RIC1,ERMP1,DOCK8,PDCD1LG2,ADAMTSL1,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP3,ATP5PDP2,LDHAP4,CCDC171,DOCK8-AS1,KIAA2026,FREM1,KCNV2,SAXO1,RPL4P5,TTC39B,GLIS3,INSL4,IGHEP2,GLDC,FTH1P12,ZDHHC21,RPL7P33,LURAP1L,PSIP1P1,PES1P2,PPIAP33,GPS2P1,RPS26P3,PLPP6,SNRPEP2,MIR101-2,LINC01235,VLDLR-AS1,RPL23AP57,HMGN2P31,SELENOTP1,AKAP8P1,IMP3P1,HMGN2P16,JKAMPP1,LINC00583,TCF3P1,AK4P4,C9orf92,CARM1P1,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,NFIB,GTF3AP1,RPL3P11,RNF2P1,RPL12P25,RPS27AP14,SAMM50P1,RNF152P1,ACTG1P14,CLCN3P1,ECM1P1,KLF4P1,CSNK1G2P1,CDCA4P1,PABPC1P11,MIR3152,EIF1P1,RAP1BP1,MIR4665,RNA5SP279,MTND5P14,MTND1P11,MTND4P14,LSM1P1,RNU6-14P,RPS3AP54,PTPRD,RLN1,RN7SL5P,RFX3,RLN2,LURAP1L-AS1,CDC37L1-DT,LINC01231,PTPRD-AS1,PRELID3BP11,LINC01230,LINC02851,RN7SL25P,RNU7-185P,RN7SL123P,RN7SL98P,SLC1A1,PRDX1P1,SMARCA2,SH3GL2,SNAPC3,TYRP1,VLDLR,RNU6-694P,RNU2-25P,RN7SL849P,RN7SL720P,MTND6P5,RNU2-47P,RN7SKP258,RNU6-319P,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-246P,RNU6-1073P,RNU6-1260P,RNU6-1327P,RNU6-559P,MTATP6P11,RPS29P33,BNC2-AS1,MPDZ,H3P29,CER1,RCL1,PUM3,PSIP1,DMRT2,INSL6,KDM4C,KANK1
 
 tzetis_12_DD/ID_discovery_cases-case77
 
 
 Unknown
 Unknown
 
 RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,HMGN2P31,RLN1,RNF152P1,AK4P4,MIR4665,GTF3AP1,SELENOTP1,TPD52L3,RN7SL25P,RPL23AP57,RN7SL123P,RPS3AP54,RNF2P1,PRELID3BP11,SNRPEP2,ACTG1P14,RPL4P5,PPIAP33,RNU7-185P,PTPRD-AS1,RPS26P3,RN7SL5P,AKAP8P1,RNU2-47P,RN7SL849P,PRDX1P1,PES1P2,ATP5PDP3,CDCA4P1,CER1,RNU6-1260P,LDHAP4,RNU6-559P,RPL7P33,RNU6-319P,RN7SL98P,FTH1P12,RNU6-246P,HMGN2P16,RNU6-14P,BNC2-AS1,LSM1P1,RN7SL720P,RPS29P33,SAMM50P1,PABPC1P11,MIR3152,RN7SKP258,RAP1BP1,RRAGA,SCARNA8,RNU6-264P,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,LINC00583,RPL3P11,SNAPC3,HAUS6,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,PLGRKT,RIC1,ERMP1,KIAA2026,MLANA,UHRF2,GLDC,KDM4C,DMAC1,PTPRD-AS2,LURAP1L-AS1,MPDZ,NFIB,FREM1,CLCN3P1,TTC39B,PSIP1,C9orf92,CNTLN,SH3GL2,PLIN2,LINC01230,SMARCA2,GLIS3,ZDHHC21,CCDC171,ADAMTSL1,SAXO1,PTPRD,BNC2
 

Controls

No Control Data Available
No Animal Model Data Available
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