3p21.31-p21.1CNV Type: Duplication
Largest CNV size: 5100000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A large duplication encompassing this region was identified in a patient with PDD-NOS and profound developmental delay/intellectual disability.
Additional Locus Information
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
5100000
0
1
1
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-case59
17 yrs.
M
PDD-NOS and developmental delay/intellectual disability
Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.
Profound DD/ID
47998609
53181565
5182957
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-case59
FISH or qPCR
Unknown
Unknown
Unknown
RN7SL664P,SNRPFP4,RNU7-128P,NDUFB1P1,MIR4443,CAMP,MRPS18AP1,FCF1P2,RN7SL321P,CCDC51,TMA7,TREX1,MIR6823,MIR711,UQCRC1,TMEM89,MIR6824,MIR4793,LINC02585,PRKAR2A-AS1,ARIH2OS,WDR6,MIR425,MIR191,IMPDH2,RN7SL182P,MIR6890,LAMB2,CCDC71,KLHDC8B,C3orf62,MIR4271,GPX1,RHOA-IT1,AMT,NICN1,RNA5SP130,BSN-DT,BSN-AS1,MST1,AMIGO3,GMPPB,COX6CP14,INKA1,MIR5193,CAMKV,RN7SL217P,ACTBP13,RBM5-AS1,GNAT1,MIR5787,SEMA3B-AS1,SEMA3B,MIR6872,IFRD2,HYAL1,HYAL2,TUSC2,RASSF1-AS1,ZMYND10-AS1,ZMYND10,TMEM115,CYB561D2,RNA5SP131,LINC02019,MIR4787,PPIAP69,ZNF652P1,ST13P14,MANF,RNU6ATAC29P,RNA5SP132,IQCF6,IQCF4,IQCF3,IQCF2,RN7SL504P,IQCF5-AS1,IQCF5,IQCF1,PARP3,GPR62,ABHD14A,RPL29,ALDOAP1,TLR9,MIRLET7G,GLYCTK,MIR135A1,BAP1,SEMA3G,TNNC1,RNU6-856P,RNU6ATAC16P,SNORD19,SNORD19B,SNORD69,GLT8D1,ITIH4-AS1,MUSTN1,MIR8064,SERBP1P3,CDC25A,ZNF589,NME6,SPINK8,MIR2115,FBXW12,PLXNB1,ATRIP,PFKFB4,UCN2,COL7A1,CELSR3,NCKIPSD,IP6K2,ARIH2,P4HTM,QRICH1,QARS,USP19,C3orf84,CCDC36,RHOA,DAG1,BSN,RNF123,IP6K1,CDHR4,TRAIP,MST1R,MON1A,RBM5,SEMA3F-AS1,SEMA3F,SLC38A3,GNAI2,LSMEM2,HYAL3,NAA80,NPRL2,C3orf18,CISH,MAPKAPK3,RBM15B,DCAF1,TEX264,GRM2,RRP9,PCBP4,ABHD14B,ABHD14A-ACY1,ACY1,DUSP7,POC1A,ALAS1,TWF2,PPM1M,WDR82,DNAH1,PHF7,NISCH,STAB1,NT5DC2,SPCS1,NEK4,ITIH1,ITIH3,TMEM110-MUSTN1,STIMATE,RFT1,PRKCD,MAP4,SHISA5,SLC26A6,PRKAR2A,SLC25A20,DALRD3,NDUFAF3,TCTA,APEH,UBA7,RBM6,CACNA2D2,HEMK1,RAD54L2,GLYCTK-AS1,SMIM4,PBRM1,GNL3,ITIH4,SFMBT1,USP4,DOCK3,RASSF1
Controls
No Control Data Available
No Animal Model Data Available