9q33.3-q34.13CNV Type: Duplication
Largest CNV size: 5014073 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication of unknown origin within this locus was identified in a 7-year-old female patient presenting with intellectual disability, feeding problems, and obesity from a cohort of 573 individuals from North West Spain with developmental delay/intellectual disability (Quintela et al., 2017).
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
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
5014073
0
1
1
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
quintela_17_DD/ID_discovery_cases-caseID_282
7 yrs.
F
Intellectual disability
Feeding problems, obesity
Intellectual disability
126294317
131195281
4900965
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
quintela_17_DD/ID_discovery_cases-caseID_282
Unknown
Unknown
NRON,SNORA65,MIR3911,TOR2A,CDK9,MIR3960,MIR2861,RNA5SP296,MIR4672,DPM2,NAIF1,SLC25A25-AS1,PTGES2-AS1,LCN2,C9orf16,MIR199B,MIR3154,COQ4,TMSB4XP4,MIR219A2,MIR219B,ODF2-AS1,RNU7-171P,VTI1BP4,RN7SL560P,ZDHHC12,ENDOG,DOLK,IER5L,C9orf106,RN7SL159P,ASB6,PRRX2-AS1,UBE2V1P4,TOR1A,C9orf78,MIR6855,RN7SL665P,MIR6856,QRFP,RNU6-881P,ZBTB43,ANGPTL2,ZNF79,RPL12,LRSAM1,PTRH1,CFAP157,TTC16,SH2D3C,ENG,AK1,ST6GALNAC6,ST6GALNAC4,FAM102A,SLC25A25,PTGES2,DNM1,GOLGA2,SWI5,SLC27A4,URM1,CERCAM,ODF2,GLE1,WDR34,HMGA1P4,SET,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,LINC01503,C9orf50,PRRX2,PTGES,TOR1B,USP20,GPR107,NCS1,ASS1,FUBP3,EXOSC2,FIBCD1,AIF1L,MVB12B,LMX1B,RALGPS1,GARNL3,SLC2A8,FAM129B,STXBP1,FPGS,CIZ1,TRUB2,SPTAN1,PKN3,KYAT1,CRAT,LINC00963,NTMT1,HMCN2,PRDM12,ABL1,NUP214,ZBTB34,PIP5KL1,NUP188,FNBP1,LAMC3
Controls
No Control Data Available
No Animal Model Data Available