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3q13.13-q13.31CNV Type: Deletion


Largest CNV size: 5280000 bp

Statistics Box:
Number of Reports: 2



Summary Information

Deletions with this region were identified in two cases (one with attention deficits, one with developmental delay/intellectual disability) in two recent reports (Molin et al., 2012; Nguyen et al., 2013).

Additional Locus Information

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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
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion

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
 5280000
 1
 0
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 4567229
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A

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
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A

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-case7
 4 yrs. 10 mos.
 M
 Attention deficits
 DECIPHER ID: 250169. Birth parameters: weight (g), NA; length (cm), NA; OFC (cm), NA. Delayed speech: none reported. Behavioral problems: attention deficits. Hypotonia: yes. Brain/CNS abnormalities: none reported. Skull abnormalities: none reported. Skeletal abnormalities: none reported. Other malformations: microorchidism, micropenis. Eye abnormalities: none reported. Dysmorphic features: prominent/broad forehead, hypertelorism, antimongoloid slant, short philtrum, low-set ears. Growth parameters: weight (kg), 25 at 4 yrs. 6 mos. (>99th %ile); height (cm), 114 at 4 yrs. 6 mos. (97th %ile); OFC (cm), 54 at 4 yrs. 6 mos. (97th %ile). Karyotype: inv(3)(q13.1;q26.3).
 Developmental delay unknown
 110520897
 115804940
  5284044
 GRCh38
 Deletion
 Yes
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-258860
 N/A
 F
 Developmental delay/intellectual disability
 Database: DECIPHER. Indication for study: Macrocephaly, intellectual disability/developmental delay
 Developmental delay/intellectual disability
 110236586
 114803815
  4567230
 GRCh38
 Deletion
 N/A

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-case7
 FISH
 
 De novo
 Unknown
 Unknown
 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,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,NECTIN3-AS1,CD96,PLCXD2,PHLDB2,TMPRSS7,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,NECTIN3,SLC9C1,BOC,TIGIT,LSAMP
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-258860
 
 
 Unknown
 Unknown
 Unknown
 RNU6ATAC15P,RPSAP29,ATP6V0CP2,ZBED2,PLCXD2-AS1,RFKP2,MIR567,TBILA,OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,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,NECTIN3-AS1,CD96,PLCXD2,PHLDB2,TMPRSS7,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,NECTIN3,SLC9C1,BOC,TIGIT
 

Controls

No Control Data Available
No Animal Model Data Available
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