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Xp11.23-p11.21CNV Type: Duplication


Largest CNV size: 9300000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo Xp11.23-p11.21 duplication was identified in a 15-year-old Lithuanian female presenting with intellectual disability and obesity (Egle et al., 2016).

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egle_16_DD/ID_discovery_cases
 Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
 66
 All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
 N/A
 N/A
 9300000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egle_16_DD/ID_discovery_controls
 CNVs from the Database of Genomic Variants (DGV)
 N/A
 Control
 N/A
 N/A
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 egle_16_DD/ID_discovery_cases
  Lithuania
 aCGH
  Agilent 60K, Agilent 105K, or Agilent 1M
 ADM-2
 Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
 FISH or RT-PCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  egle_16_DD/ID_discovery_controls
  N/A
  N/A
  N/A
 
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  egle_16_DD/ID_discovery_cases-case12_1
 15 yrs.
 F
 Intellectual disability
 Obesity, hyperopic astigmatism, minor facial anomalies
 Intellectual disability
 48933878
 58025331
  9091454
 GRCh38
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 egle_16_DD/ID_discovery_cases-case12_1
 FISH or RT-PCR
 
 De novo
 
 
 RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,RPL7AP71,RNU6-434P,PGAM4P1,MAGED2,SNORA11,TRO,PAGE2B,PAGE2,MTCO1P52,MTND2P24,MTND1P30,MTRNR2L10,PAGE5,MIR4536-1,MIR4536-2,MAGEH1,USP51,RPL23AP83,UBQLN2,UQCRBP1,SPIN2B,SPIN2A,ZXDB,NLRP2B,ZXDA,MYCLP2,KRT8P17,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,TSR2,FGD1,GNL3L,PFKFB1,APEX2,ALAS2,FAM104B,PAGE3,FOXR2,RRAGB,KLF8,PPP1R11P2,MTHFD1P1,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,FAM156A,TSPYL2,KDM5C,HUWE1,PHF8,FAM120C,WNK3,ITIH6,NBDY,SPIN3,FAAH2,PPP1R3F,CCNB3
 

Controls

No Control Data Available
No Animal Model Data Available
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