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Xp21.3-p21.2CNV Type: Duplication


Largest CNV size: 547408 bp

Statistics Box:
Number of Reports: 6



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Deletion
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 barone_13_ID/ASD_discovery_cases
 First child of nonconsanguineous Italian parents
 1
 Intellectual disability, autistic features/behavioral problems, deafness, seizures, and dysmorphic features. Case considered to have autism in childhood (score of 68 of Childhood Behavior Checklist-ABC)
 33 yrs.
 Male
 285000
 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
 703333
 2
 0
 2
 mikhail_11_DD/ID_discovery_cases
 Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)
 1200
 Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies
 NA
 NA
 1070000
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 547408
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 548350
 0
 1
 1
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 950000
 1
 0
 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
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 548350
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 barone_13_ID/ASD_discovery_cases
  Italian
 aCGH
  Agilent SurePrint G3
 
 Feature Extraction v10.7, DNA Analytics Software v4.0
 MLPA, long-range PCR
 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
 mikhail_11_DD/ID_discovery_cases
  NA
 aCGH
  Agilent 4 X 44K, Agilent 2 X 105K
 
 Feature Extraction V9.5, DNA Analytics V4.0
 FISH
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH

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
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  barone_13_ID/ASD_discovery_cases-case1
 33 yrs.
 M
 ID and autistic features
 Case considered to have autism in childhood (score of 68 of Childhood Behavior Checklist-ABC). Birth/neonatal history: born by spontaneous labor at 40 weeks; birth weight, lenght, and head circumference at 50th %ile. Developmental milestones: delayed psychomotor development; sitting at 10 months of age, independent walking at 16 months of age; use of single words at age of 12 months, complete sentences at 3 years of age. Language and communication evaluation: nasal speech. Behavioral/psychiatric evaluation: significant short attention span since childhood; lack of reciprocal social interaction and communication exhibited at 33 years of age. Epilepsy/seizures: pharmacologically-treated seizures since age of 25 years. Other features: bilateral progessive neurosensorial deafness requiring use of hearing aids since age of 5 years. Dysmorphic features: mild left divergent strabismus, convex nasal bridge, short philtrum, large ear lobules. Growth parameters: weight of 75 kg, height of 164 cm, and OFC of 55 cm at 33 years of age. Family history: first child of nonconsanguineous parents.
 Intellectual disability; IQ of 41
 29056705
 29349382
  292678
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002450
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 29128906
 29515069
  386164
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002789
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 29207382
 29910715
  703334
 GRCh38
 Deletion
 Yes
  mikhail_11_DD/ID_discovery_cases-patient8
 6 yrs.
 M
 Intellectual disability + developmental delay
 Language delay. Microcephaly. Diminished tone & strength. Dysmorphic features: triangular-shaped face, mild hypertelorism, upslated palpebral fissures. Growth parameters: height, 109 cm (10th %ile); weight, 19 kg (25th %ile); head circumference, 48.8 cm (2nd %ile).
 Intellectual disability, developmental delay
 28755881
 29825327
  1069447
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5126_4
 NA
 M
 Autism
 Anxiety disorder, delayed language development, sat at 6 m and walked at 12 m, health history uneventful except for asthma as an infant. When last evaluated at age 10 y, no obvious muscular difficulJes were noted.
 Low average IQ (5%ile)
 29003521
 29550928
  547408
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case128832
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 28931383
 29479732
  548350
 Unknown
 Duplication
 No
  roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase28
 15 yrs.
 M
 Learning disability (developmental delay/intellectual disability)
 Dysmorphism
 
 29206009
 30156196
  950188
 GRCh38
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 barone_13_ID/ASD_discovery_cases-case1
 MLPA, long-range PCR
 
 De novo
 Simplex
 Segregated
 IL1RAPL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002450
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 IL1RAPL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002789
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR4666B,IL1RAPL1
 
 mikhail_11_DD/ID_discovery_cases-patient8
 FISH
 
 Maternal
 Unknown
 Unknown
 RNA5SP500,MIR4666B,IL1RAPL1
 
 pinto_10_ASD_discovery_cases-case5126_4
 qPCR-Maternal,Agilent1M
 
 maternal
 Multiplex
 NA
 IL1RAPL1
 
 prasad_12_ASD_discovery_cases-case128832
 
 
 Unknown
 Unknown
 Unknown
 IL1RAPL1
 
 roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase28
 BACs aCGH or FISH
 
 Maternal
 Unknown
 Unknown
 MIR4666B,PIGFP3,IL1RAPL1
 

Controls

No Control Data Available
No Animal Model Data Available
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