Xq25-q26.2CNV Type: Duplication
Largest CNV size: 4680000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
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
Title
Author, Year
Report Class
CNV Type
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
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
3987443
0
1
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
4680000
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
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
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
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-ISCA00003814
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
128395951
132383344
3987394
GRCh38
Duplication
Yes
willemsen_12_DD/ID_discovery_cases-case14
M
Intellectual disability
Short stature, microcephaly
Severe ID
129568342
134268304
4699963
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003814
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT18P44,RPL32P35,RPS26P56,RNA5SP513,RAB33A,RNU6-1130P,GPR119,RBMX2,FAM45BP,RN7SL191P,OR11Q1P,OR11N1P,OR5AW1P,OR5BH1P,OR1AA1P,OR13H1,OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,RNA5SP514,OCRL,APLN,SASH3,ZDHHC9,SALL4P2,UTP14A,ELF4,ZNF280C,SLC25A14,LINC01201,OR13K1P,STK26,RAP2C,SMARCA1,XPNPEP2,AIFM1,ENOX2,IGSF1,OR7L1P,FIRRE,RAP2C-AS1,MBNL3,BCORL1,ARHGAP36,FRMD7
willemsen_12_DD/ID_discovery_cases-case14
Maternal
RAB33A,RNU6-1130P,GPR119,RBMX2,FAM45BP,RN7SL191P,OR11Q1P,OR11N1P,OR5AW1P,OR5BH1P,OR1AA1P,OR13H1,OR2AF1P,HDGFP1,MCRIP2P1,PNKDP1,RNA5SP514,RNU6-98P,HS6ST2-AS1,RNU1-115P,RNU6-203P,RPSAP63,TIMM8BP2,MIR363,MIR92A2,MIR19B2,MIR20B,MIR18B,MIR106A,LARP1BP3,CCDC160,OCRL,APLN,SASH3,ZDHHC9,SALL4P2,UTP14A,ELF4,ZNF280C,SLC25A14,LINC01201,OR13K1P,STK26,RAP2C,TFDP3,XPNPEP2,AIFM1,ENOX2,IGSF1,OR7L1P,FIRRE,RAP2C-AS1,MBNL3,HS6ST2,USP26,GPC4,GPC3,BCORL1,ARHGAP36,FRMD7
Controls
No Control Data Available
No Animal Model Data Available