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3q13.32-q21.2CNV Type: Deletion


Largest CNV size: 7320000 bp

Statistics Box:
Number of Reports: 2



Summary Information

Deletions within this region were identified in two cases with developmental delay from recent CNV reports (Kaminsky et al., 2011; Molin et al., 2012).

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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...
Deletion
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
 6803564
 1
 0
 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
 7320000
 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-ISCA00002717
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 119117166
 125920734
  6803569
 GRCh38
 Deletion
 Yes
  molin_12_DD/ASD_discovery_cases-case15
 8 yrs. 10 mos.
 M
 Developmental delay
 DECIPHER ID: NA. Birth parameters: weight (g), 3870 (85th %ile); length (cm), 52 (85th %ile); OFC (cm), 36 (85th %ile). Delayed speech: yes. Behavioral problems: none reported. Hypotonia: no. Brain/CNS abnormalities: none reported. Skull abnormalities: NA. Skeletal abnormalities: small hands with bilateral single palmar crease. Other malformations: none reported. Eye abnormalities: strabism, ptosis. Dysmorphic features: epicanthal folds, hypertelorism, antimongoloid slant. Growth parameters: weight (kg), 40 (97-99th %ile); height (cm), 133 (50-75th %ile); OFC (cm), 55 (90th %ile).
 Developmental delay
 118059900
 125384165
  7324266
 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-ISCA00002717
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 C3orf30,RPS26P21,ARHGAP31-AS1,RNU6-1127P,PHBP8,RN7SL762P,RN7SL397P,MIR198,NDUFB4,MTCO1P29,MTCO2P29,NAP1L1P3,LINC02049,MIR5682,RPL7AP11,RN7SL172P,RNU4-62P,HNRNPA1P23,WDR5B,EIF4BP8,LINC02035,MIR7110,MYLK-AS2,MIR5002,RPL7P15,MIR6083,RNU6-143P,MIR544B,ITGB5-AS1,RNA5SP137,RNU6-230P,MIR5092,DUTP1,RNU6-232P,OR7E130P,OR7E29P,OR7E93P,OR7E53P,MIR548I1,RPS3AP14,SNRPCP11,UPK1B,B4GALT4,TMEM39A,POGLUT1,TIMMDC1,ADPRH,PLA1A,RPL10P7,POPDC2,MAATS1,LRRC58,FSTL1,HGD,GTF2E1,ARGFX,FBXO40,GOLGB1,IQCB1,EAF2,ILDR1,CD86,CSTA,CCDC58,FAM162A,KPNA1,DTX3L,PARP15,HSPBAP1,HACD2,CCDC14,ROPN1,UMPS,ENO1P3,SNX4,OR7E97P,ENPP7P4,FAM86JP,IGSF11,B4GALT4-AS1,ARHGAP31,COX17,NR1I2,GSK3B,GPR156,RABL3,STXBP5L,POLQ,SLC15A2,CASR,PARP9,SEMA5B,PDIA5,SEC22A,ADCY5,MYLK-AS1,KALRN,MUC13,HEG1,SLC12A8,ZNF148,OSBPL11,CD80,HCLS1,PARP14,MYLK,ITGB5
 
 molin_12_DD/ASD_discovery_cases-case15
 FISH
 
 De novo
 Unknown
 Unknown
 C3orf30,RPS26P21,ARHGAP31-AS1,RNU6-1127P,PHBP8,RN7SL762P,RN7SL397P,MIR198,NDUFB4,MTCO1P29,MTCO2P29,NAP1L1P3,LINC02049,MIR5682,RPL7AP11,RN7SL172P,RNU4-62P,HNRNPA1P23,WDR5B,EIF4BP8,LINC02035,MIR7110,MYLK-AS2,MIR5002,RPL7P15,MIR6083,RNU6-143P,MIR544B,ITGB5-AS1,RNA5SP137,RNU6-230P,MIR5092,DUTP1,IGSF11-AS1,UPK1B,B4GALT4,TMEM39A,POGLUT1,TIMMDC1,ADPRH,PLA1A,RPL10P7,POPDC2,MAATS1,LRRC58,FSTL1,HGD,GTF2E1,ARGFX,FBXO40,GOLGB1,IQCB1,EAF2,ILDR1,CD86,CSTA,CCDC58,FAM162A,KPNA1,DTX3L,PARP15,HSPBAP1,HACD2,CCDC14,ROPN1,UMPS,ENO1P3,IGSF11,B4GALT4-AS1,ARHGAP31,COX17,NR1I2,GSK3B,GPR156,RABL3,STXBP5L,POLQ,SLC15A2,CASR,PARP9,SEMA5B,PDIA5,SEC22A,ADCY5,MYLK-AS1,KALRN,MUC13,HEG1,SLC12A8,ZNF148,CD80,HCLS1,PARP14,MYLK,ITGB5
 

Controls

No Control Data Available
No Animal Model Data Available
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