Xq11.1-q13.1CNV Type: Duplication
Largest CNV size: 8424470 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication 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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation analysis of patients with intellectual disability from North-West Spain.
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
8424470
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
5493849
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
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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-ISCA00004053
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
62712219
71136309
8424091
GRCh38
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_212
6 mos.
M
Developmental delay
Renal agenesia, preputial agenesia. Incomplete parental clinical history.
Global developmental delay
63193344
68680870
5487527
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-ISCA00004053
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MTND1P31,MTND2P25,CBX1P1,SPIN4,SPIN4-AS1,ARHGEF9-IT1,BTF3P8,MIR1468,RN7SL799P,SHC1P1,YWHAZP7,KRT8P27,GRPEL2P2,BLOC1S2P1,CCT4P2,MORF4L1P5,TLE1P1,NANOGP9,ETF1P3,MIR223,EIF4BP9,PKMP2,RNU6-394P,BMI1P1,RNU6-1225P,AKIRIN1P2,RNU6-245P,RPL31P63,COX6CP12,ACTR3P2,SERBP1P1,PJA1,HMGN1P35,CYCSP43,RNA5SP506,CNOT7P1,MIR676,OTUD6A,MTCYBP31,MTND4P31,IGBP1-AS2,IGBP1-AS1,RN7SL581P,RNA5SP507,P2RY4,RAB41,RNY4P23,GDPD2,RNU4-81P,DLG3-AS1,SNORD3E,RPS23P8,NUTF2P7,RNU1-56P,SOCS5P4,FOXO4,IL2RG,ZFRP1,HNRNPDP1,AMER1,PFN5P,LAS1L,FRMD8P1,VSIG4,EDA2R,YIPF6,EFNB1,FAM155B,AWAT2,IGBP1,DGAT2L6,AWAT1,ARR3,PDZD11,DLG3,SLC7A3,SNX12,CXorf65,MED12,LINC01278,ARHGEF9,ASB12,MTMR8,ZC3H12B,MSN,HEPH,AR,STARD8,EDA,KIF4A,TEX11,ZC4H2,OPHN1,LINC00269
quintela_17_DD/ID_discovery_cases-caseID_212
Maternal
Unknown
CBX1P1,SPIN4,SPIN4-AS1,ARHGEF9-IT1,BTF3P8,MIR1468,RN7SL799P,SHC1P1,YWHAZP7,KRT8P27,GRPEL2P2,BLOC1S2P1,CCT4P2,MORF4L1P5,TLE1P1,NANOGP9,ETF1P3,MIR223,EIF4BP9,PKMP2,RNU6-394P,BMI1P1,RNU6-1225P,AKIRIN1P2,RNU6-245P,RPL31P63,COX6CP12,HNRNPDP1,AMER1,PFN5P,LAS1L,FRMD8P1,VSIG4,EDA2R,YIPF6,LINC01278,ARHGEF9,ASB12,MTMR8,ZC3H12B,MSN,HEPH,AR,STARD8,ZC4H2,OPHN1
Controls
No Control Data Available
No Animal Model Data Available