3q13.11-q13.31CNV Type: Deletion-Duplication
Largest CNV size: 13150000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
De novo CNVs within this region were identified in two cases with developmental delay (one case had an additional diagnosis of ASD) in two recent reports (Kaminsky et al., 2011; Molin et al., 2012).
Additional Locus Information
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
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic...
Deletion
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
11472667
0
1
1
molin_12_DD/ASD_discovery_cases
14 novel patients carrying microscopic or submicroscopic deletions in the 3q12.3-q21.3 region, and 1 previously reported 3q-deletion patient (Ogilvie et al. 1998).
15
Developmental delay present in 13/15 cases; 5/15 cases with attention deficits; 3/15 cases with autism.
Range, 1 yr. 6 mos.-19 yrs. 6 mos.
66.67% Male
13150000
1
0
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
molin_12_DD/ASD_discovery_cases
NA
aCGH, array SNP
Affymetrix GeneChip 250K Nsp, Affymetrix 6.0, 1 Mb clone array, Agilent 400K, Agilent 44K, BlueGnome CytoChip V2, SpectralChip CC4-V0.3
FISH
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-ISCA00002386
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
104621220
116093884
11472665
GRCh38
Duplication
Yes
molin_12_DD/ASD_discovery_cases-case3
4 yrs. 6 mos.
M
Developmental delay and autism
DECIPHER ID: 2575. Birth parameters: weight (g), NA; length (cm), NA; OFC (cm), NA. Delayed speech: yes. Behavioral problems: autism, risky behavior, hyperactivity. Hypotonia: NA. Brain/CNS abnormalities: NA. Skull abnormalities: NA. Skeletal abnormalities: NA. Other malformations: hypothyroidism, shawl scrotum. Eye abnormalities: NA. Dysmorphic features: NA. Growth parameters: weight (kg), NA; height (cm), NA; OFC (cm), NA.
Developmental delay; IQ<50
103979429
117124983
13145555
GRCh38
Deletion
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-ISCA00002386
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
FCF1P3,MTND4P16,MTND4LP3,MTND3P6,MTCO3P35,MTATP6P22,MTND5P16,MTND6P6,MTCO1P35,MTND1P16,MTND2P14,RNU6-1308P,CCDC54,HNRNPA1P17,MORC1-AS1,RNU6-1236P,H3F3AP3,PPIAP15,MIR4445,DIMT1P1,RNU6ATAC15P,RPSAP29,ATP6V0CP2,ZBED2,PLCXD2-AS1,RFKP2,MIR567,TBILA,OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,RN7SL815P,DUBR,LINC01990,CD47,IFT57,HHLA2,CIP2A,RETNLB,TRAT1,C3orf85,DPPA4,ABHD10,TAGLN3,C3orf52,GCSAM,CD200,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,GAP43,ALCAM,CBLB,BBX,LINC00636,LINC00635,LINC01215,MYH15,DZIP3,GUCA1C,LINC00488,DPPA2,LINC01205,NECTIN3-AS1,CD96,PLCXD2,PHLDB2,TMPRSS7,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,LINC00882,NECTIN3,SLC9C1,BOC,TIGIT,LSAMP,MORC1
molin_12_DD/ASD_discovery_cases-case3
FISH
De novo
Unknown
Unknown
RAP1BP2,FCF1P3,MTND4P16,MTND4LP3,MTND3P6,MTCO3P35,MTATP6P22,MTND5P16,MTND6P6,MTCO1P35,MTND1P16,MTND2P14,RNU6-1308P,CCDC54,HNRNPA1P17,MORC1-AS1,RNU6-1236P,H3F3AP3,PPIAP15,MIR4445,DIMT1P1,RNU6ATAC15P,RPSAP29,ATP6V0CP2,ZBED2,PLCXD2-AS1,RFKP2,MIR567,TBILA,OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,RN7SL815P,LSAMP-AS1,RN7SL582P,BZW1P2,MIR4447,LINC00901,RNU5E-8P,PTMAP8,DUBR,LINC01990,CD47,IFT57,HHLA2,CIP2A,RETNLB,TRAT1,C3orf85,DPPA4,ABHD10,TAGLN3,C3orf52,GCSAM,CD200,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,GAP43,LINC00903,TUSC7,ALCAM,CBLB,BBX,LINC00636,LINC00635,LINC01215,MYH15,DZIP3,GUCA1C,LINC00488,DPPA2,LINC01205,NECTIN3-AS1,CD96,PLCXD2,PHLDB2,TMPRSS7,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,LINC00882,NECTIN3,SLC9C1,BOC,TIGIT,LSAMP,MORC1
Controls
No Control Data Available
No Animal Model Data Available