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Xp21.1-p11.4CNV Type: Duplication


Largest CNV size: 770000 bp

Statistics Box:
Number of Reports: 5



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
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