Xp21.1-p11.4CNV Type: Duplication
Largest CNV size: 770000 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
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...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
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
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
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
6072641
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
6873861
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
715716
0
1
1
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
635000
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
770000
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
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
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
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-ISCA00001938
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31665506
37921988
6256483
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case110203
N/A
M
DCD/ADHD/RD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
32053155
39085879
7032725
GRCh38
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_568
4 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
37531185
38246900
715716
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case27
7 yrs.
F
Intellectual disability
Intellectual disability
Intellectual disability
37028159
37822820
794662
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case28
M
Developmental delay
Developmental delay
Developmental delay
37745808
38515803
769996
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-ISCA00001938
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP501,NPM1P8,MIR3915,MIR548F5,DMD-AS3,TBCAP1,FAM47A,FTH1P14,FAM47B,RNU6-1087P,SIAH1P1,RNU6-641P,HMGB1P16,RPS15AP40,FTH1P18,MOB1AP2,FTH1P19,FTH1P27,FAM47DP,RNU6-49P,TMEM47,MAGEB16,FAM47C,XK,CYBB,DYNLT3,CFAP47,PRRG1,LANCL3,DMD
mosca_16_DCD_discovery_cases-case110203
qPCR
Unknown (paternal DNA not available)
Simplex
Unknown
RNA5SP501,NPM1P8,MIR3915,MIR548F5,DMD-AS3,TBCAP1,FAM47A,FTH1P14,FAM47B,RNU6-1087P,SIAH1P1,RNU6-641P,HMGB1P16,RPS15AP40,FTH1P18,MOB1AP2,FTH1P19,FTH1P27,FAM47DP,RNU6-49P,HYPM,MIR548AJ2,TDGF1P1,FTLP16,UBTFL11,RNU7-7P,MID1IP1,MID1IP1-AS1,RNU6-591P,TMEM47,MAGEB16,FAM47C,XK,CYBB,DYNLT3,SRPX,CFAP47,PRRG1,LANCL3,SYTL5,RPGR,OTC,TSPAN7,DMD
quintela_17_DD/ID_discovery_cases-caseID_568
Unknown
Unknown
FAM47DP,RNU6-49P,HYPM,MIR548AJ2,XK,CYBB,DYNLT3,SRPX,LANCL3,SYTL5
shin_15_ASD/DD/ID_discovery_cases-case27
Unknown
Unknown
FTH1P18,MOB1AP2,FTH1P19,FTH1P27,FAM47DP,XK,CYBB,PRRG1,LANCL3
willemsen_12_DD/ID_discovery_cases-case28
Maternal
RNU6-49P,HYPM,MIR548AJ2,TDGF1P1,FTLP16,CYBB,DYNLT3,SRPX,SYTL5,RPGR,OTC
Controls
No Control Data Available
No Animal Model Data Available