5p14.1-p13.1CNV Type: Duplication
Largest CNV size: 12480000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 5p14.1-p13.1 duplication was observed by whole-genome sequencing in a 1 year 7 month-old Chinese male presenting with developmental delay, motor deterioration, abnormal EEG, and congenital heart defects (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
12480000
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-caseDD18004047
1 yr. 7 mos.
Male
Developmental delay
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: motor deterioration. EEG: EEG abnormality. Additional medical history: defect in the atrial septum, mitral regurgitation, patent foramen ovale, left ventricular hypertrophy, supraventricular tachycardia, recurrent pneumonia. Dysmorphic features: external ear malformation.
28275551
40755556
12480006
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-caseDD18004047
De novo
Simplex
Segregated
LINC02103,RNU6-909P,LSP1P3,SUCLG2P4,UBL5P1,RN7SKP207,HPRT1P2,RPL19P11,DUX4L51,RNU6-363P,RNU6-358P,RNU6-760P,RPL5P14,TPT1P5,MIR4279,RNU6-1079P,RNU6-378P,MIR579,LINC02061,RNU6-923P,RXFP3,RPL21P54,BRIX1,RNU7-130P,MIR580,RNU6-1305P,NADK2-AS1,RNA5SP181,NIPBL-DT,KRT18P31,RPS4XP6,OFD1P17,RN7SL37P,RNU7-75P,KCTD9P5,RNU6-1190P,RNU6-484P,LINC02110,EGFLAM-AS3,EGFLAM-AS2,EGFLAM-AS1,MIR3650,AIG1P1,GOLGA5P1,LINC02104,CCDC11P1,INTS6P1,GCSHP1,KRT18P56,RNU1-150P,LINC02109,LINC02064,C5orf22,GOLPH3,SUB1,LINC02120,LINC02160,TARS,AMACR,C1QTNF3,RAD1,DNAJC21,AGXT2,IL7R,UGT3A1,LMBRD2,NADK2,RANBP3L,SLC1A3,GDNF,LINC02117,EGFLAM-AS4,LINC00604,PTGER4,CDH6,PDZD2,MTMR12,ZFR,NPR3,SLC45A2,C1QTNF3-AMACR,RAI14,TTC23L,PRLR,CAPSL,UGT3A2,SKP2,NIPBL,CPLANE1,NUP155,GDNF-AS1,LINC02119,EGFLAM,LIFR,LIFR-AS1,OSMR,RICTOR,FYB1,C9,DAB2,LINC00603,TTC33,DROSHA,SPEF2,WDR70,OSMR-AS1,ADAMTS12
Controls
No Control Data Available
No Animal Model Data Available