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10q24.31-q24.32CNV Type: Duplication


Largest CNV size: 711561 bp

Statistics Box:
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

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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
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

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
 711561
 0
 1
 1
 mitani_21_DD/ID_discovery_cases
 Individuals from 234 newly enrolled (175 simplex families, 54 families with two affected, four families with three affected, and one family with four affected) Turkish families in the Turkish brain malformation/NDD cohort #2 (TBM2) cohort of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) with a spectrum of neurodevelopmental disorder phenotypes.
 299
 Cases presented with brain malformations and/or neurodevelopmental disorders, with the most frequently observed NDDs being developmental delay (DD) and/or intellectual disability (ID).
 NA
 NA
 651852
 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
 mitani_21_DD/ID_discovery_cases
  Turkey
 WES, WGS
  Illumina HiSeq2000, Illumina NovaSeq6000
 NA
 XHMM, HMZDelFinder, AluAluCNVpredictor, Parliament2
 aCGH and/or ddPCR

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-ISCA00005090
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 101120347
 101831908
  711562
 GRCh38
 Duplication
 Yes
  mitani_21_DD/ID_discovery_cases-caseBAB3605
 NA
 M
 Developmental delay and intellectual disability
 Mild developmental delay/intellectual disability, hypoplastic zygomatic bone, prognathia, bilateral finger/toe nail agenesis. Family history: affected sibling does not carry this duplication.
 
 101131540
 101783391
  651852
 GRCh38
 Duplication
 Yes

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-ISCA00005090
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 TLX1,SMARCE1P7,LBX1,RNU2-43P,RNU2-59P,MIR3158-2,MIR3158-1,RNU6-1165P,NPM3,TLX1NB,LBX1-AS1,FBXW4,FGF8,OGA,KCNIP2-AS1,LINC01514,BTRC,DPCD,POLL,KCNIP2
 
 mitani_21_DD/ID_discovery_cases-caseBAB3605
 aCGH and/or ddPCR
 
 De novo
 Multiplex
 Not segregated
 FGF8,POLL,TLX1,LBX1-AS1,MIR3158-1,MIR3158-2,LINC01514,LINC02681,FBXW4,RNU2-43P,RNU6-1165P,RNU2-59P,SMARCE1P7,BTRC,NPM3,LBX1,DPCD
 

Controls

No Control Data Available
No Animal Model Data Available
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