22q11.23-q13.2CNV Type: Duplication
Largest CNV size: 15951733 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication of unknown origin spanning this region was observed in a patient born to consanguineous parents that presented with developmental delay, microcephaly, dysmorphic features, failure to thrive, hypotonia, and multiple congenital anomalies(Al-Qattan et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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
15951733
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
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-case13DG0658
N/A
N/A
Developmental delay
Developmental delay, microcephaly, dysmorphic features, coloboma, failure to thrive, hypotonia, multiple congenital anomalies: (patent ductus arteriosus, atrial septal defect, tricuspid regurgitation, left dysplastic kidney), bilateral undescended testes, and hypospadias (22q11.2 duplication syndrome). Consanguineous parents.
Developmental delay
24734343
40686039
15951697
GRCh38
Duplication
No
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-case13DG0658
Unknown
Unknown
Unknown
CRYBB3,IGLL3P,IGLVIVOR22-1,MIR6817,YES1P1,RNA5SP494,RN7SKP169,LINC02559,RNA5SP495,MIR548J,HMGB1P10,ISCA2P1,RNU6-1066P,LINC01638,MIR3199-1,MIR3199-2,RN7SL757P,MIR5739,RN7SL162P,XBP1,ZNRF3-AS1,C22orf31,RNU6-810P,RNU6-1219P,RASL10A,SNORD125,RFPL4AP6,RPEP4,RNU6-331P,MIR6818,CNN2P1,LIF-AS1,OSM,CASTOR1,RNU6-564P,MTFP1,SDC4P,SIRPAP1,MIR3200,EIF4HP2,MORC2-AS1,TUG1,RN7SL633P,PLA2G3,MIR3928,RNF185-AS1,RNU6-1128P,PIK3IP1,RNA5SP496,LINC01521,RNU6-338P,RNU6-28P,H2AFZP6,MIR7109,RN7SL20P,RNU6-201P,C22orf24,LINC02558,RN7SL305P,AP1B1P2,C22orf42,IGLCOR22-1,CPSF1P1,IGLCOR22-2,IGLVIVOR22-2,RNA5SP497,MIR4764,SNORA50B,LARGE-IT1,ISX-AS1,RNU7-167P,MIR3909,MIR6069,MRPS16P3,APOL5,MTCO1P20,MTCO2P20,MTATP6P20,MTCO3P20,MTND1P10,APOL2,MIR6819,CSF2RBP1,LL22NC01-81G9.3,RN7SKP214,LGALS2,RN7SL385P,LGALS1,H1F0,GALR3,MIR658,MIR659,RNU6-900P,MIR6820,MIR4534,SLC16A8,RN7SL704P,RPS29P31,PRDX3P1,APOBEC3B,APOBEC3C,APOBEC3G,APOBEC3H,COX5BP7,FUNDC2P4,RPL3,SNORD83B,SNORD83A,SNORD43,MGAT3-AS1,ATF4,RPS19BP1,RN7SKP210,UQCRFS1P1,RPL7P52,MRTFA-AS1,COX6B1P3,RPL4P6,GAPDHP37,TMEM211,CRYBB2,LRP5L,CRYBB2P1,ASPHD2,SRRD,TFIP11,TPST2,CRYBA4,MIAT,LINC01422,LINC02554,TTC28-AS1,HSCB,CCDC117,ZNRF3-IT1,RHBDD3,EWSR1,GAS2L1,RFPL1S,RFPL1,THOC5,NIPSNAP1,CABP7,UQCR10,ASCC2,LIF,TBC1D10A,SF3A1,CCDC157,SEC14L3,SEC14L4,GAL3ST1,PES1,TCN2,SLC35E4,DUSP18,SMTN,SELENOM,INPP5J,LIMK2,PISD,YWHAH,AP1B1P1,RFPL2,RFPL3,RTCB,BPIFC,FBXO7,TIMP3,LINC01640,LARGE-AS1,ISX,TOM1,MCM5,RASD2,MB,NDUFA9P1,APOL3,APOL4,APOL1,RPS15AP38,TXN2,FOXRED2,EIF3D,IFT27,PVALB,NCF4-AS1,NCF4,CSF2RB,TEX33,TST,MPST,KCTD17,IL2RB,C1QTNF6,SSTR3,RAC2,CYTH4,MFNG,CARD10,CDC42EP1,SH3BP1,PDXP,NOL12,GCAT,ANKRD54,MICALL1,C22orf23,SOX10,PICK1,BAIAP2L2,MAFF,CSNK1E,TPTEP2-CSNK1E,TPTEP2,KCNJ4,KDELR3,DDX17,FAM227A,TOMM22,JOSD1,GTPBP1,SUN2,DNAL4,NPTXR,CBX6,APOBEC3A,APOBEC3B-AS1,APOBEC3D,APOBEC3F,CBX7,PDGFB,SYNGR1,TAB1,MGAT3,MIEF1,GRAP2,FAM83F,SGSM3,MCHR1,PIWIL3,SGSM1,GRK3,MYO18B,HPS4,CRYBB1,MIATNB,MN1,PITPNB,CHEK2,ZNRF3,KREMEN1,EMID1,NEFH,NF2,ZMAT5,MTMR3,HORMAD2-AS1,HORMAD2,SEC14L6,OSBP2,MORC2,RNF185,PIK3IP1-AS1,PATZ1,SFI1,PRR14L,DEPDC5,SLC5A1,SLC5A4-AS1,SLC5A4,RFPL3S,SYN3,LINC01643,LINC01399,HMGXB4,HMOX1,RBFOX2,MTCYBP34,MYH9,TMPRSS6,ELFN2,GGA1,EIF3L,POLR2F,PLA2G6,TMEM184B,DMC1,CBY1,CACNA1I,TNRC6B,ADSL,MRTFA,SEZ6L,TTC28,AP1B1,RNF215,SEC14L2,DRG1,EIF4ENIF1,APOL6,CACNG2,TRIOBP,ENTHD1,KIAA1671,LARGE1
Controls
No Control Data Available
No Animal Model Data Available