8p11.22-q11.21CNV Type: Duplication
Largest CNV size: 10477264 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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
Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.
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
ahram_16_ASD/ADHD/ID_discovery_cases
Male patient born to non-consanguineous Greek parents presenting with a mosaic (60%) partial pericentromeric trisomy 8 and maternal uniparental disomy of the same chromosome
1
Case diagnosed with PDD-NOD based on ADOS; additional diagnoses of mild intellectual disability and ADHD
6 yrs.
Male
11290000
0
1
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
10477264
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
ahram_16_ASD/ADHD/ID_discovery_cases
Greek
G-banded karyotyping, solid phase hybridization
Illumina OmniExpress 700K array
GenomeStudio V.2011
qRT-PCR
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
ahram_16_ASD/ADHD/ID_discovery_cases-case1
6 yrs.
M
ASD (PDD-NOS), ID, and ADHD
Case diagnosed with PDD-NOS based on ADOS and due to lack of communication and abstract thinking, temper tantrums, poor interaction with other children, and obsession with buttons. Birth/neonatal history: pregnancy complicated by polyhydramnios and dilatation of pelvicalyceal system (identified by ultrasound, the latter resolved spontaneously at birth); birth weight of 3800 g; normal growth pattern; GERD for first few months of life; difficulty in breastfeeding during first two months. Developmental milestones: delayed speech; talked at 3 years with dysarthria possibly secondary to hypotonia. Langauge and communication evaluation: improvement in comprehensible speech due to speech therapy; uses short sentences with word repetition and mimicking. Motor and musculoskeletal evaluation: generalized hypotonia; delayed fine and gross motor skills. Behavioral/psychiatric evaluation: case diagnosed with ADHD; impulsive and easily frustrated; hyperphagia. Vision evaluation: hypermetropia of the left eye (visual acuity improved by patching the right eye). Hearing evaluation: normal hearing as tested by brain stem evoked potential at 2 years. Additional medical history: developed allergy to cow milk at 18 months; developed chronic asthma with virally induced exacerbations but grew out of it at 4 years; significant drooling secondary to excessive salivation. Growth parameters: weight of 28 kg (75th %ile), height of 123 cm (90th %ile), and head circumference of 55 cm (> 2 SD above mean for gender and age) at age of 6 years. Family history: case born to nonconsanguineous parents of Greek descent. Karyotyping and additional genetic information: G-banded chromosomal analysis showed a mosaic (60%) marker chromosome that was identified in a de novo 8p11.22-q11.21 supernumerary marker chromosome; maternal uniparental disomy of the same chromosome.
Case diagnosed with mild intellectual disability without designation of an IQ figure.
39132294
49370588
10238295
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003816
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39830633
49209461
9378829
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
ahram_16_ASD/ADHD/ID_discovery_cases-case1
qRT-PCR
De novo
Likely segregated
TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,HSPA8P13,ASNSP4,MTND2P38,MTND1P7,RNU6-656P,MTCYBP20,MTND6P20,RN7SKP32,RNU6-819P,RPL10AP2,NDUFA5P12,ATP6V1G1P2,IGLV8OR8-1,RNU6-665P,CEBPD,RNU6-519P,RNU6-295P,RNA5SP531,RPL29P19,LINC02599,SNAI2,RN7SKP294,RFPL4AP7,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,ASNSP1,LINC00293,MAPK6P4,UBE2V2,EFCAB1,PPDPFL,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,TRIM60P15,SPIDR,PRKDC,MCM4,ZMAT4,HOOK3,KAT6A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003816
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,HSPA8P13,ASNSP4,MTND2P38,MTND1P7,RNU6-656P,MTCYBP20,MTND6P20,RN7SKP32,RNU6-819P,RPL10AP2,NDUFA5P12,ATP6V1G1P2,IGLV8OR8-1,RNU6-665P,CEBPD,RNU6-519P,RNU6-295P,RNA5SP531,RPL29P19,LINC02599,SNAI2,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,ASNSP1,LINC00293,MAPK6P4,UBE2V2,EFCAB1,PPDPFL,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,TRIM60P15,SPIDR,PRKDC,MCM4,ZMAT4,HOOK3,KAT6A
Controls
No Control Data Available
No Animal Model Data Available