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Xp11.4-p11.3CNV Type: Deletion


Largest CNV size: 3500000 bp

Statistics Box:
Number of Reports: 4



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-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...
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 689000
 0
 1
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 2095549
 1
 0
 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
 2416481
 1
 1
 2
 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
 3500000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 300628
 1
 1
 2
 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
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 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
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299880
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 41981988
 42670636
  688649
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260322
 N/A
 F
 Developmental delay
 Pontocerebellar hypoplasia; Progressive microcephaly; Cortical visual impairment; Severe global developmental delay
 
 41787069
 43882625
  2095557
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001859
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 41823849
 44240337
  2416489
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005209
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 41431518
 43256505
  1824988
 GRCh38
 Duplication
 Yes
  willemsen_12_DD/ID_discovery_cases-case7
 2 yrs.
 F
 Intellectual disability
 Microcephaly, facial dysmorphic features
 Intellectual disability
 42115803
 45565811
  3450009
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB461757_1007854302
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42380397
  42681026
  300630
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900877_900877
  N/A
  N/A
  Control
  No previous psychiatric history
 
  42551792
  42646021
  94230
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299880
 
 
 Maternal
 
 
 ATP5MC2P4,RNU6-630P,RNU6-1124P
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260322
 
 
 De novo
 Unknown
 Unknown
 RNU6-202P,ATP5MC2P4,RNU6-630P,RNU6-1124P,PPP1R2C,IMPDH1P4,NANOGP10,PINCR,MAOA,CASK,MAOB
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001859
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RNU6-202P,ATP5MC2P4,RNU6-630P,RNU6-1124P,PPP1R2C,IMPDH1P4,NANOGP10,PINCR,MAOA,NDP,NDP-AS1,CASK,MAOB,EFHC2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005209
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CASK-AS1,RNU6-1321P,RN7SL144P,GPR34,RNU6-202P,ATP5MC2P4,RNU6-630P,RNU6-1124P,PPP1R2C,NYX,GPR82,PINCR,CASK
 
 willemsen_12_DD/ID_discovery_cases-case7
 
 
 De novo
 
 
 RNU6-630P,RNU6-1124P,PPP1R2C,IMPDH1P4,NANOGP10,RRM2P3,FDPSP5,CHTF8P1,RPL19P20,RPSAP61,RN7SL291P,DUSP21,PINCR,MAOA,NDP,NDP-AS1,TATDN2P1,FUNDC1,MAOB,EFHC2,LINC01204,KDM6A
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB461757_1007854302
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900877_900877
 
 
  Unknown
 
 
 
 

No Animal Model Data Available
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