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3q26.1-q26.33CNV Type: Duplication


Largest CNV size: 17000000 bp

Statistics Box:
Number of Reports: 1



Summary Information

De novo duplication identified in a male patient with autism and borderline developmental delay/intellectual disability

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
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
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
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 17000000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  battaglia_13_DD/ID/ASD_discovery_cases-case26
 10 yrs. 2 mos.
 M
 Autism and borderline DD/ID
 Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
 Borderline DD/ID
 163926003
 180985957
  17059955
 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
 battaglia_13_DD/ID/ASD_discovery_cases-case26
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 MIR1263,SLITRK3,MTND4P17,MTND4LP10,MTND3P7,MTCO3P38,MCUR1P2,LINC01326,RN7SKP298,PSAT1P4,CBX1P5,PPIAP74,HMGN1P8,MEMO1P3,HMGN2P26,RNU2-20P,MIR551B,RPSAP33,RPL21P43,LINC01997,RPL22P1,RNU6-637P,TERC,ACTRT3,KRT18P43,RNU4-38P,RNU6-315P,MIR6828,KRT8P13,KLF7P1,RNU1-70P,MIR569,RNU6-348P,TMEM212-IT1,RPS27AP8,RN7SL141P,BZW1P1,GHSR,SLC31A1P1,RNU6-547P,RNU4-4P,ATP5MC1P4,RN7SKP234,RN7SKP40,EEF1B2P8,MIR4789,RNU6-1233P,RNU4-91P,RNU6-1317P,NAALADL2-AS1,ACTG1P23,EI24P1,MIR7977,RNA5SP147,MTND5P15,RNU6-681P,ASS1P7,RN7SKP52,RNU6-1120P,RNA5SP148,PPIAP75,LRRFIP1P1,ZNF639,MTHFD2P7,RNA5SP149,GAPDHP36,RNU6-486P,RN7SL229P,FLYWCH1P1,DNAJC19,LINC01323,LINC01327,SERPINI2,PDCD10,LINC02082,MYNN,LRRC34,LRRIQ4,SAMD7,SEC62,SEC62-AS1,GPR160,CLDN11,RPL22L1,EIF5A2,SLC2A2,TMEM212,TMEM212-AS1,TNFSF10,LINC02068,NCEH1,NLGN1-AS1,UBE2V1P2,LINC01208,TBL1XR1-AS1,LINC00501,LINC01014,KCNMB3,MFN1,MRPL47,NDUFB5,PEX5L-AS1,PEX5L-AS2,LINC02053,CCDC39-AS1,LINC01324,SI,LINC02023,LINC01322,BCHE,ZBBX,WDR49,LRRC77P,GOLIM4,MECOM,PHC3,PRKCI,SKIL,SLC7A14,TNIK,PLD1,FNDC3B,ECT2,NAALADL2-AS2,LINC01209,LINC00578,LINC02015,KCNMB2,KCNMB2-AS1,ZMAT3,PIK3CA,GNB4,ACTL6A,USP13,PEX5L,TTC14,CCDC39,FXR1,EGFEM1P,LRRC31,SPATA16,NLGN1,NAALADL2,NAALADL2-AS3,TBL1XR1,SERPINI1
 

Controls

No Control Data Available
No Animal Model Data Available
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