Xp11.21-p11.1CNV Type: Duplication
Largest CNV size: 1054000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
CNV screening of a cohort of 335 Han Chinese ASD probands in Chen et al., 2017 detected a 1.054 Mb duplication of unknown origin in the Xp11.21-p11.1 locus in a male proband.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
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
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
1054000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chen_17_ASD_discovery_controls2
Male control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan screened for CNVs at the X chromosome
525
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
100% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chen_17_ASD_discovery_controls2
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chen_17_ASD_discovery_cases-caseU-1160
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 20 (past score 22); Qualitative abnormalities in verbal and nonverbal communication, current score 15 (past score 17); Qualitative abnormalities in nonverbal communication, current score 12 (past score 12); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 5); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score n/a; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score n/a. Epilepsy: history of febrile convulsion but ceased medication after episodes.
Performance IQ 109, Verbal IQ 122, Full-scale IQ 118
57357614
58411744
1054131
GRCh38
Duplication
Yes
Controls
No Control Data Available
No Animal Model Data Available