17q21.32-q21.33CNV Type: Deletion
Largest CNV size: 3009944 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletions within this region were found in two cases 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
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
3009944
2
0
2
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
567000
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
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
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-ISCA00002412
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49137864
52147810
3009947
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004117
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
48520885
49511208
990324
GRCh38
Deletion
Yes
kim_18_DD/ID_discovery_cases-case28
0.2 yrs.
M
Developmental delay
Dysmorphic features, hyperpigmentation, failure to thrive, pulmonary stenosis
Developmental delay
48992995
49560014
567020
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-ISCA00002412
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
GNGT2,PHOSPHO1,MIR6129,EIF4EP2,LINC02075,MIR6165,SLC35B1,SRP14P3,FLJ45513,RNU6-1313P,DLX3,HILS1,SUMO2P7,TMEM92,MRPL27,MRPS21P9,CHAD,EPN3,ANKRD40,ANKRD40CL,MIR8059,RPL5P33,TOB1,NME1,RPL7P48,ABI3,FLJ40194,ZNF652,NGFR,NXPH3,FAM117A,TAC4,DLX4,PICART1,PDK2,SAMD14,PPP1R9B,SGCA,TMEM92-AS1,XYLT2,EME1,LRRC59,RSAD1,MYCBPAP,SPATA20,CACNA1G-AS1,ABCC3,WFIKKN2,TOB1-AS1,NME1-NME2,NME2,UTP18,LINC02071,B4GALNT2,PHB,SPOP,KAT7,ITGA3,COL1A1,ACSF2,CACNA1G,LUC7L3,SPAG9,MBTD1,CA10,LINC02073
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004117
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HOXB2,HOXB-AS2,MIR10A,HOXB5,HOXB6,HOXB8,HOXB9,HOXB-AS4,MIR196A1,RPL9P28,COX6B1P2,PRAC1,PRAC2,MIR3185,RN7SL125P,ATP5MC1,RNU1-42P,GIP,RNU6-826P,GNGT2,PHOSPHO1,MIR6129,EIF4EP2,LINC02075,MIR6165,HOXB1,HOXB-AS1,HOXB3,HOXB-AS3,HOXB4,LINC02086,HOXB13,TTLL6,CALCOCO2,UBE2Z,SNF8,B4GALNT2P1,ABI3,FLJ40194,ZNF652,NGFR,HOXB7,SUMO2P17,IGF2BP1,B4GALNT2,PHB
kim_18_DD/ID_discovery_cases-case28
Maternal
RNU6-826P,GNGT2,PHOSPHO1,MIR6129,EIF4EP2,LINC02075,MIR6165,B4GALNT2P1,ABI3,FLJ40194,ZNF652,NGFR,IGF2BP1,B4GALNT2,PHB
Controls
No Control Data Available
No Animal Model Data Available