9p13.1-q13CNV Type: Duplication
Largest CNV size: 27118744 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 male patient born to non-consanguineous parents presenting with global developmental delay with dysmorphic features (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
27118744
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-case10DG1455
N/A
M
Developmental delay
Global developmental delay with dysmorphic features, frontonasal dysplasia, short stature, spontaneous nystagmus, syndactyly, joint laxity, faint systolic murmur in aortic area. Non-consanguineous parents.
Global developmental delay
38916517
67549861
28633345
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-case10DG1455
Unknown
Unknown
Unknown
RBM17P1,RN7SL640P,SPATA31A1,FAM74A1,FKBP4P2,SDR42E1P1,ATP5F1AP8,RAB28P1,RBPJP5,RN7SL763P,RPL7AP49,C2orf27AP3,RNU6-1269P,SNX18P8,FAM95B1,CNN2P2,GXYLT1P3,IGKV1OR9-2,RNU6-156P,MIR1299,FOXD4L6,MIR4477A,RNA5SP530,CDK2AP2P1,MYO5BP1,RN7SL565P,RBM17P3,RN7SL343P,FAM74A7,SDR42E1P2,ATP5F1AP1,RAB28P3,RBPJP6,FGF7P5,FGF7P4,ADGRF5P2,MEP1AP4,RNU6-599P,SNX18P5,CYP4F60P,CNN2P4,RN7SL462P,RN7SL722P,FAM27C,FAM242E,RN7SL544P,FGF7P7,CNTNAP3P5,RBPJP7,RAB28P2,ATP5F1AP7,SDR42E1P3,FKBP4P7,LINC01410,RNA5SP283,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1,FGF7P8,BMS1P9,MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,RNU6-1193P,SNX18P9,CYP4F25P,CNN2P3,GXYLT1P6,BMS1P11,IGKV1OR-2,BNIP3P4,RNU6-1293P,IGKV1OR9-1,FOXD4L5,FOXD4L4,IGKV1OR-3,SNX18P4,RNU6-538P,RBPJP2,RAB28P4,ATP5F1AP10,SDR42E1P4,FKBP4P8,FAM74A3,SPATA31A3,RN7SL422P,RBM17P2,VN2R3P,SKP1P3,GLIDR,MEP1AP1,AQP7P5,BMS1P14,SPATA31A6,FKBP4P6,GXYLT1P5,SPATA31A5,FAM74A6,SPATA31A7,FAM242D,CNTNAP3P1,AQP7P4,AQP7P1,FRG1JP,ANKRD20A4,AQP7P2,BMS1P12,CBWD4P,FRG1KP,CBWD5,BMS1P13,AQP7P3,GXYLT1P4,ANKRD20A3,ZNF658,CNTNAP3,ZNF658B,ANKRD20A2,FRG1HP,PGM5P2,CBWD6,FAM242F,ANKRD20A7P,FAM74A4,CNTNAP3C,FGF7P6,LINC01189,BMS1P10,FGF7P3,CNTNAP3B,CNTNAP3P2
Controls
No Control Data Available
No Animal Model Data Available