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3q12.3-q13.31CNV Type: Deletion


Largest CNV size: 12814966 bp

Statistics Box:
Number of Reports: 2



Summary Information

De novo deletion identified in a male patient with ASD and global developmental delays (Girirajan et al., 2012)

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
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic...
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 12814966
 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
 15300000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 12814966
 NA
 NA
 NA

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 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
 
 
 G-banded karyotyping

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  girirajan_12_ASD/DD/ID_discovery_cases-case49331
 10.5 yrs.
 M
 ASD
 Behavioral problems: ASD. Normal tone, poor balance. Dysmorphic features: facial asymmetry, laterally displaced inner canthi, wrinkled earlobes, long nasal root, frontal bossing, midface hypoplasia, small chin, prominent gums with large central incisors. Congenital anomalies: mild left ventricular hypertrophy, scoliosis requiring surgery, 2-3 toe syndactyly. Growth parameters: weight 75th-90th %ile, height 75th %ile, OFC 75th %ile. Family history: mother with possible scoliosis.
 Global developmental delays, IQ in extremely low range with borderline performance and processing speed.
 101340119
 114155082
  12814964
 GRCh38
 Deletion
 Yes
  molin_12_DD/ASD_discovery_cases-case1
 19 yrs. 6 mos.
 M
 Developmental delay and attention deficits
 DECIPHER ID: NA. Birth parameters: weight (g), NA; length (cm), NA; OFC (cm), NA. Delayed speech: no. Behavioral problems: attention deficits. Hypotonia: yes. Brain/CNS abnormalities: NA. Skull abnormalities: dolicephaly. Skeletal abnormalities: kyphosis, small hands, long fingers. Other malformations: crowded teeth and soft enamel, small testis. Eye abnormalities: strabism, myopia, ptosis. Dysmorphic features: prominent/broad forehead, antimongoloid slant, short philtrum, high arched palate, large ears. Growth parameters: weight (kg), NA; height (cm), 187 (95th %ile); OFC (cm), 59.5 (90th %ile).
 Developmental delay
 102131255
 117427460
  15296206
 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
 girirajan_12_ASD/DD/ID_discovery_cases-case49331
 FISH, aCGH, or confirmation by inheritance
 
 De novo
 Unknown
 Unknown
 ZNF90P1,FAM172BP,RNU6-1256P,RNY1P12,RPL24,PDCL3P4,RNU6-461P,RNU1-43P,NDUFA4P2,MIR548AB,TUBBP11,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,TRMT10C,ZBTB11,ZBTB11-AS1,CEP97,NXPE3,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,SENP7,PCNP,NFKBIZ,LINC02085,ZPLD1,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,LINC00882,NECTIN3,SLC9C1,BOC,MORC1
 
 molin_12_DD/ASD_discovery_cases-case1
 G-banded karyotyping
 
 De novo
 Unknown
 Unknown
 RNU6-461P,RNU1-43P,NDUFA4P2,MIR548AB,TUBBP11,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,ZPLD1,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
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