3q12.3-q13.31CNV Type: Deletion
Largest CNV size: 12814966 bp
Statistics Box:
Number of Reports: 2
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
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