4p16.34-p15.33CNV Type: Deletion
Largest CNV size: 11000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion encompassing this region was identified in a male patient with moderate-mild developmental delay/intellectual disability and epilepsy.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
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
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
11000000
1
0
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
battaglia_13_DD/ID/ASD_discovery_cases-case18
1 yr. 9 mos.
M
Developmental delay/intellectual disability and epilepsy
Autism: no. Epilepsy: yes. Dysmorphic features: yes.
Moderate-mild DD/ID
72555
11400137
11327583
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case18
FISH or qPCR
De novo
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,OR7E83P,MIR548I2,SNRPCP13,ENPP7P11,ALG1L3P,OR7E35P,DRD5,RNA5SP154,MIR3138,RNA5SP155,MIR572,RNPS1P1,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,RAF1P1,ZNF518B,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,FAM86MP,SLC2A9,WDR1,CLNK,LINC02498,HS3ST1,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
Controls
No Control Data Available
No Animal Model Data Available