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3q13.11-q21.3CNV Type: Deletion


Largest CNV size: 22400000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo deletion within this region was identified in a patient with autism (Molin 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

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
 22400000
 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
 
 
 qPCR

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-case4
 1 yr. 6 mos.
 M
 Autism
 DECIPHER ID: 251017. Birth parameters: weight (g), 3680 (50-85th %ile); length (cm), 52 (85th %ile); OFC (cm), 36 (85-97th %ile). Delayed speech: yes. Motor/musculoskeletal evaluation: sits independently, but does not stand or walk. Behavioral problems: autism, repetitive behavior, anxiety. Hypotonia: yes. Brain/CNS abnormalities: NA. Skull abnormalities: brachycephaly, relative macrocephaly. Skeletal abnormalities: small hands, short fingers, proximal set thumbs. Other malformations: atrophic rigth kidney, micropenis, retention testis bilat. Eye abnormalities: none reported. Dysmorphic features: prominent/broad forehead, epicanthal folds, antimongoloid slant, short philtrum, small low-set ears. Growth parameters: weight, 85th-97th %ile; height, 85th-97th %ile; OFC, <50th %ile.
 Developmental delay unknown
 104580989
 126976442
  22395454
 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-case4
 qPCR
 
 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,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,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,ALG1L,RNU1-30P,CCDC37-DT,RNA5SP138,RCC2P4,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,ARGFX,FBXO40,GOLGB1,IQCB1,EAF2,ILDR1,CD86,CSTA,CCDC58,FAM162A,KPNA1,DTX3L,PARP15,HSPBAP1,HACD2,CCDC14,ROPN1,UMPS,ENO1P3,SNX4,OR7E97P,ENPP7P4,FAM86JP,ROPN1B,ALDH1L1,ALDH1L1-AS1,ALDH1L1-AS2,CFAP100,ZXDC,CHST13,C3orf22,NUP210P1,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,POLQ,SLC15A2,CASR,PARP9,SEMA5B,PDIA5,SEC22A,ADCY5,MYLK-AS1,KALRN,MUC13,HEG1,SLC12A8,ZNF148,OSBPL11,SLC41A3,KLF15,UROC1,TXNRD3,LINC00882,NECTIN3,SLC9C1,BOC,TIGIT,LSAMP,CD80,HCLS1,PARP14,MYLK,ITGB5,CHCHD6,MORC1
 

Controls

No Control Data Available
No Animal Model Data Available
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