Xq22.1-q22.3CNV Type: Duplication
Largest CNV size: 5500000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
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
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
4919977
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
6182510
3
1
4
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
5500000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chaves_24_ASD/DD/ID_discovery_cases-case801
F
Developmental delay
Facial dysmorphism, hypothyroidism, low weight, developmental delay
101828119
106748095
4919977
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001677
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101620923
107632397
6011475
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001986
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101407698
106274188
4866491
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004326
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
103350604
104513304
1162701
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004779
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
102070552
108264804
6194253
GRCh38
Deletion
Yes
willemsen_12_DD/ID_discovery_cases-case12
M
Intellectual disability
Neurological problems. Mother with borderline ID.
Severe ID
100638347
106199351
5561005
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
chaves_24_ASD/DD/ID_discovery_cases-case801
Unknown
IL1RAPL2,BEX3,RAB9B,TCEAL9,RADX,NXF5,BEX1,NXF3,MTND2P2,TCEAL7,TEX13A,NXF4,NXF2,BEX4,TCEAL4,ARMCX5,RNF128,BHLHB9,ESX1,BEX2,TCEAL3,TCEAL8,ZMAT1,GPRASP2,TCEAL2,PWWP3B,RAB40A,FAM199X,TCEAL6,H2BW1,TMEM31,NRK,RAB40AL,BEX5,H2BW2,MORF4L2-AS1,TCEAL5,TMSB15B,SLC25A53,GLRA4,FOXN3P1,KCTD9P2,SLC25A53P1,ZCCHC18,DPPA3P1,NXF2B,H2BW3P,ELF2P1,CNEP1R1P1,TMSB15B-AS1,CTDSPL2P2,RPSAP59,RPL18AP14,LINC00630,BEND7P1,SERPINA7P1,NUDT19P2,MIR548AN,ARMCX5-GPRASP2,MTND1P32,RNA5SP511,MTND4P32,MTND5P26,TCP11X1,TCP11X2,NAP1L4P2,TCEAL3-AS1,PLP1,SERPINA7,RNU6-345P,RNU6-589P,MTND6P13,MTND6P32,MTCO1P19,MTATP6P19,TCP11X3P,RNU6-207P,MTCO3P19,MTCO2P19,MTCYBP32,CSGALNACT2P2,H3P45,H2BP8,H2BP9,C3orf49P1,MORF4L2,TCEAL1,GPRASP1,TMSB15A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001677
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ARMCX3,ARMCX3-AS1,RNU6-30P,ARMCX2,RNU6-587P,RNU6-345P,MTND6P13,TCEAL2,TCEAL6,TCP11X3P,ARMCX5,GPRASP1,RNU6-589P,BEND7P1,GPRASP2,MTND1P32,MTND2P2,MTCO1P19,MTCO2P19,MTATP6P19,MTCO3P19,MTND4P32,MTND5P26,MTND6P32,MTCYBP32,RAB40AL,BEX1,RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,ZMAT1,BEX5,TCP11X1,NXF2,TCP11X2,TMSB15A,FOXN3P1,NXF4,BHLHB9,LINC00630,NXF3,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NXF5,NXF2B,ARMCX5-GPRASP2,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,IL1RAPL2,NRK,MORC4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001986
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HNRNPH2,PPIAP90,ARMCX1,ARMCX7P,ARMCX6,ARMCX3,ARMCX3-AS1,RNU6-30P,ARMCX2,RNU6-587P,RNU6-345P,MTND6P13,TCEAL2,TCEAL6,TCP11X3P,ARMCX5,GPRASP1,RNU6-589P,BEND7P1,GPRASP2,MTND1P32,MTND2P2,MTCO1P19,MTCO2P19,MTATP6P19,MTCO3P19,MTND4P32,MTND5P26,MTND6P32,MTCYBP32,RAB40AL,BEX1,RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,RPL36A-HNRNPH2,GLA,ZMAT1,BEX5,TCP11X1,NXF2,TCP11X2,TMSB15A,FOXN3P1,NXF4,BHLHB9,LINC00630,NXF3,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,ARMCX4,NXF5,NXF2B,ARMCX5-GPRASP2,MORF4L2,TMSB15B,SERPINA7,IL1RAPL2,NRK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004326
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,MORF4L2,TMSB15B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004779
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
TCEAL2,TCEAL6,TCP11X3P,ARMCX5,GPRASP1,RNU6-589P,BEND7P1,GPRASP2,MTND1P32,MTND2P2,MTCO1P19,MTCO2P19,MTATP6P19,MTCO3P19,MTND4P32,MTND5P26,MTND6P32,MTCYBP32,RAB40AL,BEX1,RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,NAP1L4P2,SERPINA7P1,MIR548AN,RIPPLY1,EEF1A1P40,MYCLP1,DNAJA1P3,KRT18P49,NLRP3P1,TEX13B,BEX5,TCP11X1,NXF2,TCP11X2,TMSB15A,FOXN3P1,NXF4,BHLHB9,LINC00630,NXF3,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,RNF128,CLDN2,NUP62CL,FRMPD3-AS1,FRMPD3,PRPS1,NCBP2L,VSIG1,PSMD10,NXF2B,ARMCX5-GPRASP2,MORF4L2,TMSB15B,SERPINA7,TBC1D8B,RBM41,PIH1D3,TSC22D3,MID2,ATG4A,COL4A6,IL1RAPL2,NRK,MORC4
willemsen_12_DD/ID_discovery_cases-case12
Maternal
Maternal
PPIAP89,HNRNPA1P26,HNRNPA1P27,RNU6-934P,NANOGNBP3,RPL21P132,TIMM8A,RPL36A,HNRNPH2,PPIAP90,ARMCX1,ARMCX7P,ARMCX6,ARMCX3,ARMCX3-AS1,RNU6-30P,ARMCX2,RNU6-587P,RNU6-345P,MTND6P13,TCEAL2,TCEAL6,TCP11X3P,ARMCX5,GPRASP1,RNU6-589P,BEND7P1,GPRASP2,MTND1P32,MTND2P2,MTCO1P19,MTCO2P19,MTATP6P19,MTCO3P19,MTND4P32,MTND5P26,MTND6P32,MTCYBP32,RAB40AL,BEX1,RPSAP59,BEX4,TCEAL8,TCEAL5,BEX2,TCEAL7,TCEAL9,BEX3,TCEAL3-AS1,MORF4L2-AS1,TMEM31,RNA5SP511,TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,ZCCHC18,PHBP10,RPL18AP14,TEX13A,KCTD9P2,RNU6-207P,TSPAN6,SYTL4,CSTF2,NOX1,ARL13A,TRMT2B,TMEM35A,CENPI,DRP2,TAF7L,BTK,RPL36A-HNRNPH2,GLA,ZMAT1,BEX5,TCP11X1,NXF2,TCP11X2,TMSB15A,FOXN3P1,NXF4,BHLHB9,LINC00630,NXF3,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,RAB9B,SLC25A53,FAM199X,ESX1,XKRX,TRMT2B-AS1,ARMCX4,NXF5,NXF2B,ARMCX5-GPRASP2,MORF4L2,TMSB15B,SERPINA7,IL1RAPL2,NRK,SRPX2
Controls
No Control Data Available
No Animal Model Data Available