8p23.1-p21.3CNV Type: Duplication
Largest CNV size: 14249466 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
fisch_11_ASD_discovery_cases
Four cases initially diagnosed cytogenetically with chromosome 8p inverted duplication deletion [invdupdel(8p23)], blood from all 4 cases examined at M.I.N.D. Institute (Univ. of California, Davis)
4
3 cases with diagnosis of autism, 1 case with diagnosis of ADHD. Diagnosis on autism based on CARS. Attention/activity deficits (ADHD or ADD) assessed using CPRS-R. Cognitive abilities assessed using SBFE, adaptive behavior skills assessed with VABS.
Range, 3-15 yrs.
50% Male
14249466
0
2
2
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
8165028
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
fisch_11_ASD_discovery_cases
NA
aCGH
Agilent Human Genome CGH 244A
Feature Extraction Software v9.1, Agilent Genomic Workbench v5.0
None
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
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
fisch_11_ASD_discovery_cases-case3
13 yrs
F
Autism
Diagnosis of severe autism based on CARS score of 45.5. Severely impaired expressive speech & language. CBCL T-scores denoted severe thought problems (T=86), withdrawn (T=74), and social problems (T=75). CPRS-R scores for cognitive problems, hyperactivity, anxious/shy, perfectionistic, somatic problems, ADHD symptoms, restless/impulsive and emotionally labile scales >95th %ile. Parents showed normal microarray patterns.
Severe developmental & intellectual disability. SBFE test composite score (36) amd VABS adaptive behavior composite score (20) were at the floor value for both tests.
8117071
22366537
14249466
Unknown
Duplication
No
fisch_11_ASD_discovery_cases-case4
15 yrs.
M
ADHD
CPRS-R scores in 95th %ile for hyperactivity, consistent with a DSM-IV diagnosis of ADHD. CARS score of 21 (not autistic). CBCL noted non-statistically significant thought & social problems. Clear expressive speech & language. Dysmorphic features: none. Parents showed normal microarray patterns.
Mild intellectual deficits (based on test composite on SBFE of 56); lower than adequate levels of adaptive behavior (adaptive behavior composite on VABS of 59)
12511655
21726774
9215119
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002118
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12787272
20952389
8165118
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
fisch_11_ASD_discovery_cases-case3
Unknown (likely de novo based on parents' microarray results)
Unknown
SGK223,CLDN23,MFHAS1,ERI1,PPP1R3B,TNKS,MSRA,PRSS55,RP1L1,C8orf74,SOX7,PINX1,XKR6,MTMR9,SLC35G5,FAM167A,BLK,GATA4,NEIL2,FDFT1,CTSB,DEFB136,DEFB135,DEFB134,LOC100133267,DEFB130,ZNF705D,USP17L2,FAM86B1,FAM86B2,LONRF1,KIAA1456,DLC1,C8orf48,SGCZ,TUSC3,MSR1,FGF20,EFHA2,ZDHHC2,CNOT7,VPS37A,MTMR7,SLC7A2,PDGFRL,MTUS1,FGL1,PCM1,ASAH1,NAT1,NAT2,PSD3,SH2D4A,CSGALNACT1,INTS10,LPL,SLC18A1,ATP6V1B2,LZTS1,GFRA2,DOK2,XPO7,NPM2,FGF17,EPB49,FAM160B2,NUDT18,HR,REEP4,LGI3,SFTPC,BMP1,PHYHIP,POLR3D,PIWIL2,SLC39A14,PPP3CC
fisch_11_ASD_discovery_cases-case4
Unknown (likely de novo based on parents' microarray results)
Unknown
LONRF1,KIAA1456,DLC1,C8orf48,SGCZ,TUSC3,MSR1,FGF20,EFHA2,ZDHHC2,CNOT7,VPS37A,MTMR7,SLC7A2,PDGFRL,MTUS1,FGL1,PCM1,ASAH1,NAT1,NAT2,PSD3,SH2D4A,CSGALNACT1,INTS10,LPL,SLC18A1,ATP6V1B2,LZTS1,GFRA2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002118
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,SGCZ,TUSC3,PSD3,LPL
Controls
No Control Data Available
No Animal Model Data Available