Xq13.2-q21.1CNV Type: Duplication
Largest CNV size: 7000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
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
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
7000000
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
willemsen_12_DD/ID_discovery_cases-case11
M
Intellectual disability
Minor facial and genital anomalies, short stature, broad thorax
Severe ID
73253439
80207845
6954407
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
willemsen_12_DD/ID_discovery_cases-case11
De novo
YWHAZP8,RNU6-1044P,MORF4L1P6,RPL7P53,SEPHS1P4,RPSAP14,UHRF2P1,DDX3P2,MKRN5P,ATP5MDP1,MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,BUD31P2,RNU6-562P,RPL21P134,PCNPP4,BRAFP1,MAGEE2,SAR1AP4,PBDC1,RNU6-867P,LDHBP2,MAGEE1,RNA5SP508,TRAPPC13P1,MIR384,MIR325,RNA5SP509,SPRYD7P1,FGF16,FABP5P15,RNU6-854P,RN7SL460P,PGAM4,HMGN1P34,UBE2V1P7,RTL3,PPATP2,LPAR4,RPL7P54,MIR4328,CTHRC1P1,KIF4CP,CDX4,XIST,FXYD6P3,DDX3P1,RAB11FIP1P1,RLIM,UPRT,TTC3P1,COX7B,TAF9B,FNDC3CP,CYSLTR1,P2RY10,P2RY10BP,ITM2A,TBX22,MAP2K4P1,CHIC1,TSIX,JPX,FTX,BMP2KL,NEXMIF,ABCB7,MIR325HG,MAGT1,ATP7A,PGK1,GPR174,SLC16A2,ATRX,ZDHHC15
Controls
No Control Data Available
No Animal Model Data Available