Xp22.33/Yp11.32-p11.31CNV Type: Duplication
Largest CNV size: 2530000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo duplication within this region was identified in a male Spanish ASD proband with a total IQ of 64 (Alvarez-Mora et al., 2016).
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
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
alvarez-mora_16_ASD_discovery_cases
Unrelated ASD male patients from Spain
50
All cases fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R; most cases presented with high-functioning ASD without facial dysmorphic features
10.85 8.02 yrs.
Male
2530000
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
2497000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
alvarez-mora_16_ASD_discovery_cases
Spain
aCGH, array SNP
Agilent 180K, Affymetrix CytoScan HD
Agilent Cytogenomics v2.0, Affymetrix ChAS v1.2.2
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
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
alvarez-mora_16_ASD_discovery_cases-caseASD-61
N/A
M
ASD
Case fulfilled DSM-5 criteria for ASD; diagnosis confirmed with ADI-R.
Total IQ of 64
251879
2785592
2533714
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case22
N/A
M
ASD
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: present.
Normal (no intellectual disability)
192689/142689
2689408/2639408
2497000
GRCh37
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
alvarez-mora_16_ASD_discovery_cases-caseASD-61
De novo
Possibly segregated
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG
monteiro_19_ASD_discovery_cases_case22
Unknown
PLCXD1,GTPBP6,LINC00685,PPP2R3B,AL732314.1,FABP5P13,KRT18P53,SHOX,RP11-309M23.1,RPL14P5,CRLF2,CSF2RA,BX649553.3,BX649553.4,BX649553.2,MIR3690,BX649553.1,RNA5SP498,RN7SL355P,IL3RA,SLC25A6,LINC00106,ASMTL-AS1,ASMTL,P2RY8,AKAP17A,ASMT,RP13-297E16.4,RP13-297E16.5,DHRSX,DHRSX-IT1,ZBED1,CD99P1,LINC00102,CD99,XG
Controls
No Control Data Available
No Animal Model Data Available