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3q13.13-q13.33CNV Type: Deletion


Largest CNV size: 12520000 bp

Statistics Box:
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

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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
 12520000
 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
 
 
 FISH

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-case6
 5 yrs. 1 mo.
 F
 Developmental delay
 DECIPHER ID: 252522. Birth parameters: weight (g), 2510 (3rd-15th %ile); length (cm), 47 (15th %ile); OFC (cm), 33 (15-50th %ile). Delayed speech: none reported. Behavioral problems: none reported. Hypotonia: NA. Brain/CNS abnormalities: agenesis of corpus callosum, enlarged lateral ventricle. Skull abnormalities: NA. Skeletal abnormalities: NA. Other malformations: NA. Eye abnormalities: myopia. Dysmorphic features: prominent/broad forehead, hypertelorism, antimongoloid slant. Growth parameters: weight (kg), 19 at 4 yrs. 10 mos. (<75th %ile); height (cm), 112.5 at 4 yrs. 10 mos. (85th %ile); OFC (cm), 52 at 4 yrs. 10 mos. (90th %ile).
 Developmental delay
 108914561
 121432033
  12517473
 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-case6
 FISH
 
 De novo
 Unknown
 Unknown
 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,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,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,NECTIN3,SLC9C1,BOC,TIGIT,LSAMP,CD80,MORC1
 

Controls

No Control Data Available
No Animal Model Data Available
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