9p24.3-p22.2CNV Type: Deletion
Largest CNV size: 17853104 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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
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
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
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
17853104
1
0
1
mohamed_21_DD/ID_discovery_cases
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
17515696
2
0
2
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
16501000
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
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002577
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
220253
18073359
17853107
GRCh38
Deletion
Yes
mohamed_21_DD/ID_discovery_cases-case1
5 mos.
M
Developmental delay, intellectual disability, and autistic behavior
Developmental milestones: developmental delay (DQ 48%). Motor and musculoskeletal evaluation: global hypotonia, long tapering fingers/toes, clinodactyly, narrow flat feet, talipes. Behavioral/psychiatric evaluation: autistic behavior. Brain imaging: hypoplasia on the corpus callosum. Additional medical history: patent ductus arteriosus, inguinal hernia, constipation, frequent infections. Dysmorphic features: trigonocephaly/prominent metopic suture, flat occiput, upslanting palpebral fissures, arched/bushy eyebrows, hypertelorism, epicanthus, midface hypoplasia, flat nasal bridge, anteverted nares, long flat philtrum, low-set and posteriorly rotated ears, micrognathia, microstomia, short neck, widely spaced nipples, fair hair. Growth parameters: weight mean, height -0.5 SD, head circumference -0.5 SD.
Intellectual disability
208453
17724148
17515696
GRCh38
Deletion
No
mohamed_21_DD/ID_discovery_cases-case5
6 yrs.
F
Developmental delay, intellectual disability, seizures, and autistic behavior
Developmental milestones: developmental delay, absent speeech. Motor and musculoskeletal evaluation: global hypotonia, joint hyperlaxity, long tapering fingers/toes, narrow flat feet, widely spaced toes, scoliosis, short stature. Behavioral/psychiatric evaluation: autistic behavior, sleep disorders. Epilepsy/seizures: seizures. Brain imaging: mild cortical atrophy, hypoplasia of the corpus callosum, prominent Sylvian fissures. Additional medical history: atrial septal defect, gastrointestinal reflux, constipation, frequent infections, excessive drooling. Dysmorphic features: trigonocephaly/prominent metopic suture, flat occiput, upslanting palpebral fissures, arched/bushy eyebrows, hypertelorism, epicanthus, nystagmus, midface hypoplasia, flat nasal bridge, anteverted nares, long flat philtrum, low-set and posteriorly rotated ears, prominent mandible, microstomia, short neck, widely spaced nipples, hypopigmentation of skin/hair. Growth parameters: weight -1 SD, height -2.1 SD, head circumference -2 SD.
Intellectual disability
208453
16880696
16672244
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case46
14 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
204193
16705261
16501069
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002577
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
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,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,LINC00583,RPL3P11,SNAPC3,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,LINC01230,SMARCA2,GLIS3,ZDHHC21,CCDC171,ADAMTSL1,PTPRD,BNC2
mohamed_21_DD/ID_discovery_cases-case1
Unknown
MLANA,DMRT1,RANBP6,CD274,AK3,BNC2,SPATA6L,CNTLN,CDC37L1,PLGRKT,DMRT3,RIC1,ERMP1,DOCK8,PDCD1LG2,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP3,ATP5PDP2,LDHAP4,CCDC171,DOCK8-AS1,KIAA2026,FREM1,KCNV2,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,EIF1P1,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,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-case5
Unknown
MLANA,DMRT1,RANBP6,CD274,AK3,BNC2,SPATA6L,CDC37L1,PLGRKT,DMRT3,RIC1,ERMP1,DOCK8,PDCD1LG2,GLIS3-AS1,DMAC1,IL33,TPD52L3,UHRF2,ATP5PDP3,ATP5PDP2,LDHAP4,CCDC171,DOCK8-AS1,KIAA2026,FREM1,KCNV2,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,RNF152P1,ACTG1P14,CLCN3P1,ECM1P1,KLF4P1,CSNK1G2P1,CDCA4P1,EIF1P1,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,SNAPC3,TYRP1,VLDLR,RNU6-694P,RNU2-25P,RN7SL849P,MTND6P5,RNU2-47P,RNU6-319P,MTCO1P11,RN7SL592P,MTCO3P11,MTCO2P11,RNU6-246P,RNU6-1073P,RNU6-1260P,RNU6-1327P,RNU6-559P,MTATP6P11,BNC2-AS1,MPDZ,H3P29,CER1,RCL1,PUM3,PSIP1,DMRT2,INSL6,KDM4C,KANK1
sansovic_17_DD/ID/ASD_discovery_cases-case46
De novo
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,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,CD274,PDCD1LG2,RANBP6,IL33,IMP3P1,JKAMPP1,TYRP1,LURAP1L,LINC01235,LINC00583,RPL3P11,SNAPC3,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,LINC01230,SMARCA2,GLIS3,ZDHHC21,CCDC171,PTPRD,BNC2
Controls
No Control Data Available
No Animal Model Data Available