9q34.13-q34.3CNV Type: Duplication
Largest CNV size: 6816754 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
3816906
0
1
1
yatsenko_12_ASD/DD/ID_discovery_cases
Unrelated children with variable phenotypes found to have a gain in DNA copy number in the subtelomeric 9q34 region revealed by aCGH, FISH, or chromosome analysis performed at Baylor College of Medicine and elsewhere.
20
Phenotypes include one or more of the following: ASD, DD, ID, dysmorphic features, multiple congenital anomalies (MCA)
Range, 1 yr.-16 yrs.
60.0% Male
6816754
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
yatsenko_12_ASD/DD/ID_discovery_cases
NA
aCGH, FISH
Custom 9q34 oligonucleotide array (Agilent)
PCR
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
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG1429
N/A
N/A
Intellectual disability
Intellectual disability and speech delay with subtle dysmorphic features, bilateral shoulder and hip laxity. Consanguineous parents from same tribe.
Intellectual disability
132917210
136715050
3797841
GRCh38
Duplication
No
yatsenko_12_ASD/DD/ID_discovery_cases-caseP50
6 yrs.
F
Intellectual disability
Speech delay
ID
131471046
138138735
6667690
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG1429
Unknown
Unknown
Unknown
MIR548AW,RNU7-21P,EEF1A1P5,MIR6877,GBGT1,OBP2B,LCN1P1,LCN1P2,MED22,SNORD24,SNORD36B,SNORD36A,SNORD36C,SURF1,SURF2,SLC2A6,MYMK,DBH-AS1,BRD3OS,ARF4P1,RNU6ATAC,LINC02247,MIR4669,COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,GFI1B,CEL,CELP,RALGDS,ABO,SURF6,RPL7A,SURF4,STKLD1,REXO4,CACFD1,FAM163B,DBH,BRD3,WDR5,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,TSC1,GTF3C5,ADAMTS13,ADAMTSL2,SARDH,VAV2,RXRA,COL5A1,KCNT1,NACC2,SEC16A
yatsenko_12_ASD/DD/ID_discovery_cases-caseP50
PCR
De novo
SNORD62A,SNORD62B,RN7SL328P,EIF4A1P3,RNU5D-2P,BARHL1,SPACA9,MIR548AW,RNU7-21P,EEF1A1P5,MIR6877,GBGT1,OBP2B,LCN1P1,LCN1P2,MED22,SNORD24,SNORD36B,SNORD36A,SNORD36C,SURF1,SURF2,SLC2A6,MYMK,DBH-AS1,BRD3OS,ARF4P1,RNU6ATAC,LINC02247,MIR4669,COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,POMT1,UCK1,PRRT1B,NTNG2,SETX,GTF3C4,GFI1B,CEL,CELP,RALGDS,ABO,SURF6,RPL7A,SURF4,STKLD1,REXO4,CACFD1,FAM163B,DBH,BRD3,WDR5,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,PRRC2B,RAPGEF1,MED27,TTF1,CFAP77,DDX31,AK8,TSC1,GTF3C5,ADAMTS13,ADAMTSL2,SARDH,VAV2,RXRA,COL5A1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
Controls
No Control Data Available
No Animal Model Data Available