17q22-q23.1CNV Type: Duplication
Largest CNV size: 228000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
The precise breakpoints of this duplication, observed in a patient with developmental delay and ADHD, were not provided in the original report; as such, the exact gene content of this duplication is unknown. However, the autism candidate gene BZRAP1 may reside within this duplication.
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
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
228000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
482376
0
1
1
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
490850
0
2
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gannon_11_ASD/DD_discovery_cases-patient91
Developmental delay + ADHD
No dysmorphic features; ADHD; expressive language delay, disruptive behavior. Family history: both parents noted to have bipolar disorder and suicide attempts.
IQ70
NA
NA
228000
Unknown
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlHABC_900194_900194
N/A
N/A
Control
No previous psychiatric history
59132952
59615328
482377
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_1
N/A
N/A
Control
Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
59128763
59619612
490850
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
N/A
N/A
Control
Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
59128763
59619612
490850
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gannon_11_ASD/DD_discovery_cases-patient91
Unknown
Unknown
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900194_900194
Unknown
MIR454,MIR301A,SNRPGP17,MIR4729,RNU4-13P,PRR11,SPDYE22P,SMG8,DHX40,SKA2,GDPD1,YPEL2,LINC01476
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_1
Unknown
N/A (both twins typically developing)
RNU2-58P,MIR454,MIR301A,SNRPGP17,MIR4729,RNU4-13P,PRR11,SPDYE22P,SMG8,DHX40,SKA2,GDPD1,YPEL2,LINC01476
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
Unknown
N/A (both twins typically developing)
RNU2-58P,MIR454,MIR301A,SNRPGP17,MIR4729,RNU4-13P,PRR11,SPDYE22P,SMG8,DHX40,SKA2,GDPD1,YPEL2,LINC01476
No Animal Model Data Available