3q12.3-q13.33CNV Type: Deletion
Largest CNV size: 19040000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion within this region was identified in a patient with developmental delay (Molin 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
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
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
19040000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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
molin_12_DD/ASD_discovery_cases-case2
17 yrs.
F
Developmental delay
DECIPHER ID: NA. Birth parameters: weight (g), 3040 (15-50th %ile); length (cm), NA; OFC (cm), NA. Delayed speech: yes. Behavioral problems: NA. Hypotonia: yes. Brain/CNS abnormalities: NA. Skull abnormalities: NA. Skeletal abnormalities: small hands, short fingers and first toe, promixal set thumbs. Other malformations: NA. Eye abnormalities: myopia. Dysmorphic features: broad face, hypertelorism, antimongoloid slant, short philtrum, high arched palate. Growth parameters: weight (kg), NA (obese); height, 50th %ile (at 3 years); OFC, 50th %ile (at 3 years).
Developmental delay
102280281
121319467
19039187
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
molin_12_DD/ASD_discovery_cases-case2
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,RNU6-1200P,C3orf30,RPS26P21,ARHGAP31-AS1,RNU6-1127P,PHBP8,RN7SL762P,RN7SL397P,MIR198,NDUFB4,MTCO1P29,MTCO2P29,NAP1L1P3,LINC02049,MIR5682,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,LINC02024,IGSF11-AS1,UPK1B,B4GALT4,TMEM39A,POGLUT1,TIMMDC1,ADPRH,PLA1A,RPL10P7,POPDC2,MAATS1,LRRC58,FSTL1,HGD,GTF2E1,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,IGSF11,B4GALT4-AS1,ARHGAP31,COX17,NR1I2,GSK3B,GPR156,RABL3,STXBP5L,LINC00882,NECTIN3,SLC9C1,BOC,TIGIT,LSAMP,CD80,MORC1
Controls
No Control Data Available
No Animal Model Data Available