10p12.31-p11.22CNV Type: Deletion
Largest CNV size: 10000000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A large deletion encompassing this region was identified in a patient with profound developmental delay/intellectual disability and epilepsy.
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, ...
Deletion
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
10000000
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
13535334
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
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
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-case49
4 yrs. 5 mos.
M
Developmental delay/intellectual disability and epilepsy
Autism: no. Epilepsy: yes. Dysmorphic features: yes.
Profound DD/ID
22350763
32048567
9697805
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case63
NA
F
ASD, developmental delay, and intellectual disability
Global developmental delay, autism spectrum disorder, facial dysmorphism.
Mild/moderate intellectual disability
18837140
32372473
13535334
GRCh38
Duplication
No
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-case49
FISH or qPCR
Unknown (not maternal)
Unknown
Unknown
RNU6-413P,RNA5SP304,YWHAZP3,PTF1A,OTUD1,NUP35P1,MIR603,RNA5SP305,RN7SKP241,RN7SKP220,GPN3P1,HIRAP1,RNA5SP306,RNU6-632P,RNA5SP307,FAM238B,HSPA8P3,RNU6-946P,RNU6-490P,RNU2-24P,RNU7-12P,RNU6-666P,RNU6-452P,FAM210CP,TRIAP1P1,RN7SKP132,RPL36AP55,MRPS21P5,MIR8086,ZNF101P1,RPSAP10,RNU4ATAC6P,TPRKBP1,RNU6-1067P,BAMBI,RNU6-270P,LINC00837,RNA5SP308,RPL21P93,PTCHD3P1,MIR604,MIR938,CKS1BP2,RNU6-908P,RNU6-598P,EEF1A1P39,DNM1P17,GOLGA2P6,RN7SL241P,MIR7162,NIFKP1,CCND3P1,HNRNPA1P32,RN7SL63P,DDX10P1,RNA5SP309,SPTLC1P1,HMGB1P7,RPL34P19,RN7SL825P,MSRB2,THNSL1,LINC01516,GAD2,FAM238A,SELENOOLP,ABI1,FAM238C,MASTL,ACBD5,LRRC37A6P,PTCHD3,MKX,MKX-AS1,WAC-AS1,LYZL1,SVIL-AS1,MTPAP,MAP3K8,LYZL2,ZEB1-AS1,KIF5B,SPAG6,PIP4K2A,ARMC3,C10orf67,ARHGAP21,PRTFDC1,ENKUR,GPR158,LINC00836,MYO3A,APBB1IP,PDSS1,ANKRD26,YME1L1,RAB18,ARMC4,RN7SKP39,WAC,LINC01517,SVIL,JCAD,SVIL2P,ZNF438,ARHGAP12,KIAA1217,ARMC4P1,MPP7,ZEB1,GPR158-AS1
streata_22_ASD/DD/ID_discovery_cases-case63
Unknown
BMI1,CCND3P1,MAP3K8,WAC,ODAD2,MYO3A,APBB1IP,MTPAP,GPR158,ARHGAP21,PRTFDC1,KIAA1217,JCAD,DNAJC1,THNSL1,EPC1,ACBD5,MASTL,PLXDC2,LYZL1,ARHGAP12,LYZL2,YWHAZP3,MPP7,ZEB1-AS1,ENKUR,ARMC3,WAC-AS1,ZNF438,OTUD1,GAD2,CKS1BP2,C10orf67,PTF1A,MKX,PSME2P6,EBLN1,MALRD1,MRPS21P5,PTCHD3,SKIDA1,FAM238C,LRRC37A6P,PTCHD3P1,MIR1915HG,PPIAP31,RPSAP10,RPS4XP11,NIFKP1,ADIPOR1P1,SVIL2P,FAM238A,HNRNPA1P32,MIR603,MIR604,RPL21P93,RPL31P45,HNRNPRP1,GOLGA2P6,FAM238B,MIR938,NEBL-AS1,GPR158-AS1,EIF4BP2,UBE2V2P1,KIF5B,DNM1P17,AMD1P1,RNU7-22P,FAM210CP,RNU7-12P,RPS24P13,TRIAP1P1,RPL34P19,MIR1915,NUP35P1,GPN3P1,RNU6-15P,HMGB1P7,MRM3P1,RPL36AP55,HSPA8P3,ZNF101P1,DDX10P1,HIRAP1,LINC00837,MIR4675,COMMD3-BMI1,RNA5SP306,MTND1P21,RNA5SP308,RNA5SP303,EEF1A1P39,RNA5SP305,RNA5SP309,RNA5SP307,MTND2P16,RNA5SP304,HMGN1P20,SPTLC1P1,ODAD2P1,LUZP4P1,TPRKBP1,PIP4K2A,LINC01516,LINC00836,LINC02673,NPM1P30,LINC02664,LINC01517,MKX-AS1,SVIL-AS1,MIR7162,MACORIS,MIR8086,LINC02680,MPP7-DT,LINC02652,SELENOOLP,LINC02644,LINC02643,RN7SKP219,ZEB1,SVIL,RNU6-306P,RNU6-908P,RNU6-270P,RNU6-413P,RNU6-598P,RNU2-24P,RNU4ATAC6P,RNU6-632P,RNU6-490P,RN7SL241P,RN7SKP39,RN7SKP220,RNU6-452P,RN7SKP37,RNU6-666P,RN7SKP132,RN7SL63P,RNU6-1067P,RNU6-1212P,RNU6-946P,RN7SKP241,RNU6-1141P,RN7SL825P,MTND1P37,MLLT10,SPAG6,ABI1,YME1L1,NEBL,ANKRD26,PDSS1,RAB18,MSRB2,COMMD3,BAMBI
Controls
No Control Data Available
No Animal Model Data Available