Xq26.3-q27.1CNV Type: Duplication
Largest CNV size: 3895813 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Duplications involving 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...
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
3990492
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
3895813
0
2
2
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
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
han_22_ASD/DD/ID_discovery_cases-case16D0761
1 mo. 28 days
F
Developmental delay/Intellectual disability
135892309
139882800
3990492
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001135
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
138256775
139274578
1017804
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005184
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136522136
140417943
3895808
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
han_22_ASD/DD/ID_discovery_cases-case16D0761
Unknown
CD40LG,BRS3,F9,FHL1,FGF13,HTATSF1,SNORD61,RBMX,VGLL1,SAGE1,MAP7D3,GPR101,MMGT1,E2F6P4,ADGRG4,MAGEA13P,GAPDHP67,RAC1P4,ATP11C,KRT8P6,MIR504,RPL7P56,SNURFL,MIR934,SRRM1P3,LINC00892,FGF13-AS1,RAB28P5,RANP4,CT45A11P,MCF2,RPL22P23,ZFYVE9P1,STK24P1,CT45A10,SRD5A1P1,RNU6-985P,RNU6-972P,RN7SL325P,RN7SKP31,RNU6-320P,ZIC3,H2AQ1P,ARHGEF6,SLC9A6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001135
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP31,MAGEA13P,KRT8P6,MIR504,FGF13-AS1,FGF13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005184
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR934,RNU6-320P,LINC00892,RNU6-972P,RPL7P56,RANP4,RAB28P5,SNORD61,RPL22P23,SRRM1P3,GPR101,RAC1P4,RN7SL325P,ZFYVE9P1,RNU6-985P,RN7SKP31,MAGEA13P,KRT8P6,MIR504,FGF13-AS1,SRD5A1P1,RNU6ATAC23P,MIR505,CXorf66,HNRNPA3P3,RN7SL727P,VGLL1,CD40LG,RBMX,ZIC3,SNURFL,F9,ARHGEF6,FGF13,MCF2,ATP11C
Controls
No Control Data Available
No Animal Model Data Available