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3q26.31-qterCNV Type: Duplication


Largest CNV size: 24920000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A 24.9 Mb mosaic duplication, which includes the NLGN1 gene among others, was detected in an autistic male with mild 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
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.
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
 carreira_09_ASD_discovery_cases
 Autistic male, first born of non-consanguineous healthy parents
 1
 Diagnosis of autism based on ADI-R and DSM-IV criteria
 NA (adult)
 Male
 24920000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 carreira_09_ASD_discovery_cases
  European
 G-banded karyotyping, FISH
 
 
 
 Mulitcolor banding (MCB) analysis, aCGH (BACs aCGH)

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
  carreira_09_ASD_discovery_cases-case1
 NA (adult)
 M
 Autism
 Diagnosis of autism based on ADI-R and DSM-IV criteria. Birth/neonatal history: delivered at term after uneventful pregnancy; birth weight <5th %ile; no major neonatal problems, except for surgically corrected club foot. Developmental milestones: developmental delay noted soon after birth. Adatpive behavior (at 11 years of age): age equivalence of 30 month age level. Vineland Adaptive Behaviour Scales (as adult): communication domain score, 30; daily living skills domain score, 59; socialization domain score, 63. Epilepsy/seizures: fever convlusions observed between the age of 9 and 24 months old. Dysmorphic features: low set and slightly enlarged ears, high and arched palate, round face. Growth parameters (at 11 years of age): height, 25th-50th %ile; weight, 90th %ile; head circumference, 50th %ile. Family history: non-consanguineous healthy parents with normal karyotype. Patient karyotype: mos 46,XY,add12(p13.3).ish inv dup(3)(qter q26.3::q26.3 qter)(wcp3+,pcp3q+,D3S4560++) [56]/46,XY
 Non-verbal IQ: 61 (at 11 years of age; indicative of mild developmental delay/intellectual disability)
 174370000
 199290000
  24920000
 Unknown
 Mosaic 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
 carreira_09_ASD_discovery_cases-case1
 mulitcolor banding (MCB) analysis, aCGH (BACs aCGH)
 
 Unknown (likely de novo)
 Simplex
 Likely segregated
 NLGN1,NAALADL2,TBL1XR1,KCNMB2,ZMAT3,PIK3CA,KCNMB3,ZNF639,MFN1,GNB4,ACTL6A,MRPL47,NDUFB5,USP13,PEX5L,TTC14,CCDC39,FXR1,DNAJC19,SOX2,ATP11B,DCUN1D1,MCCC1,LAMP3,MCF2L2,B3GNT5,KLHL6,KLHL24,YEATS2,MAP6D1,PARL,ABCC5,HTR3D,HTR3C,HTR3E,EIF2B5,DVL3,AP2M1,ABCF3,VWA5B2,ALG3,ECE2,CAMK2N2,PSMD2,EIF4G1,FAM131A,CLCN2,POLR2H,THPO,CHRD,EPHB3,MAGEF1,VPS8,C3orf70,EHHADH,MAP3K13,TMEM41A,LIPH,SENP2,IGF2BP2,TRA2B,ETV5,DGKG,CRYGS,TBCCD1,DNAJB11,AHSG,FETUB,HRG,KNG1,EIF4A2,RFC4,ADIPOQ,ST6GAL1,RPL39L,RTP1,MASP1,RTP4,SST,RTP2,BCL6,LPP,TPRG1,TP63,LEPREL1,CLDN1,CLDN16,TMEM207,IL1RAP,GMNC,OSTN,UTS2D,CCDC50,PYDC2,FGF12,MB21D2,HRASLS,ATP13A5,ATP13A4,OPA1,HES1,CPN2,LRRC15,GP5,ATP13A3,TMEM44,LSG1,FAM43A,XXYLT1,ACAP2,PPP1R2,APOD,MUC20,MUC4,TNK2,TFRC,ZDHHC19,OSTalpha,PCYT1A,TCTEX1D2,TM4SF19,UBXN7,RNF168,C3orf43,WDR53,FBXO45,LRRC33,CEP19,PIGX,PAK2,SENP5,NCBP2,PIGZ,MFI2,DLG1,BDH1,KIAA0226,FYTTD1,LRCH3,IQCG,RPL35A,LMLN
 

Controls

No Control Data Available
No Animal Model Data Available
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