4q11-q13.1CNV Type: Duplication
Largest CNV size: 13230000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication of unknown origin in the 4q11-q13.1 chromosomal region was identified by whole-genome sequencing in a 6-year-old Chinese female presenting with developmental delay and seizures (Jiao et al., 2019).
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 combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
13230000
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
jiao_19_EP/DD/ID_discovery_cases-caseDD18000156
6 yrs.
Female
DD and epilepsy/seizures
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: cerebral palsy. Epilepsy/seizures: seizures. Additional medical history: episodic tachypnea.
51818952
65048616
13229665
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
jiao_19_EP/DD/ID_discovery_cases-caseDD18000156
Unknown
Simplex
Unknown
DUTP7,LINC02480,RNU6-1252P,USP46-AS1,DANCR,MIR4449,SNORA26,RASL11B,RNU6-310P,LNX1-AS2,RPL21P44,MORF4L2P1,RPL22P13,LINC02260,RPL38P3,RNU6-410P,RN7SL424P,RN7SL822P,RNU6-746P,LRRC34P2,FCF1P8,RN7SKP30,RNU6-276P,RNU6-652P,RNA5SP161,RNU6-197P,MRPL22P1,RPL7AP31,GLDCP1,RPL17P20,RN7SL492P,RN7SL357P,RNU6-998P,UBE2CP3,RPS26P24,SRIP1,LINC02494,LINC02619,RNU6-1325P,MIR548AG1,RPL17P19,RPS15AP17,RPL21P47,HMGN1P11,EXOC5P1,LARP1BP1,RNU6-191P,DPP3P1,MTCO3P27,MTCYBP16,MTND6P16,MTND5P13,MTND4LP31,MTND3P24,MTCO3P28,LRRC66,SPATA18,USP46,ERVMER34-1,FIP1L1,LNX1-AS1,CHIC2,GSX2,LINC02283,KIT,LINC02358,KDR,SRD5A3,SRD5A3-AS1,NMU,EXOC1,PPAT,PAICS,ARL9,THEGL,HOPX,SPINK2,REST,NOA1,IGFBP7,LINC02380,LINC02429,LINC02496,LINC02271,DCUN1D4,SGCB,LINC01618,SCFD2,PDGFRA,TMEM165,CLOCK,EXOC1L,CEP135,KIAA1211,AASDH,SRP72,POLR2B,IGFBP7-AS1,ADGRL3-AS1,TECRL,LNX1,PDCL2,ADGRL3,LINC02232
Controls
No Control Data Available
No Animal Model Data Available