1p21.2-p13.2CNV Type: Duplication
Largest CNV size: 10400000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A 10.4 Mb de novo duplication in this region was detected in an autistic male with mild mental deficiency.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
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
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
10190932
1
0
1
piccione_10_ASD_discovery_cases
Child born to non-consanguineous parents presenting with ASD, mild mental deficiency, and minor dysmorphic features
1
Psychological profile compatible with ASD with mild mental deficiency, based on Autism Diagnostic Observation Schedule (ADOS) module 4
17 yrs.
Male
10400000
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
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
piccione_10_ASD_discovery_cases
Italy
aCGH
Agilent 4 X 44K
FISH
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002256
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101618097
111703028
10084932
GRCh38
Deletion
Yes
piccione_10_ASD_discovery_cases-case1
17 yrs.
M
ASD
Diagnosis of ASD based on ADOS module 4. Birth/neonatal history: threats of miscarriages during pregnancy; born vaginally at 40 weeks with Apgar scores of 9 & 10. Developmental milestones: independent walking at 1 yr; psychomotor retardation, language retardation, and difficulty in establishing relationships since age of 1 yr. Behavioral/psychiatric characteristics: stereotyped movements (finger snapping, repeated mannerisms with obsessive-compulsive behavior). EEG: unremarkable (5 yrs. of age). Brain MRI: normal. Astigmatism (diagnosed at 4 years). Dysmorphic features: narrow forehead, small receding chin, prominent nasal bridge, flat nose, short philtrum, midface hypoplasia, arachnodactyly of the fingers. Abdominal ultrasonogrpahy at 5 yrs showed slight hepatosplenomegaly. Growth parameters: birth weight in 10th-25th %ile, birth length and OFC in 25th-50th %ile; reduction in growth parameters at 5 yrs. of age; scant adipose tissue at 17 yrs. of age. Family history: negative for mental retardation, behavior anomalies, or birth defects.
Mild mental deficiency. Age of 5 yrs.: IQ of 50. Age of 17 yrs.: full-scale IQ of 64; performance IQ of 56; verbal IQ of 76.
102540642
112979474
10400000
Unknown
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002256
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-965P,RPSAP19,RNU6-352P,DNAJA1P5,SOD2P1,RN7SKP285,ACTG1P4,AMY2A,AMYP1,AMY1C,FTLP17,CDK4P1,SEPT2P1,MTATP6P14,MTCO1P14,PRMT6,MIR7852,ST13P21,PRPF38B,SPATA42,RANP5,TMEM167B,SCARNA2,C1orf194,ATXN7L2,AMIGO1,RNU6V,MIR197,RPL7P8,NDUFA5P10,UBL4B,LINC02586,LAMTOR5,PROK1,CYMP,CYMP-AS1,KCNA10,NRBF2P3,CCNT2P1,RNA5SP54,CHIAP1,PIFO,HIGD1AP12,PGCP1,UBE2FP3,RNU6-792P,ADORA3,KRT18P57,RNU6-151P,AMY2B,AMY1A,AMY1B,LINC01676,LINC01677,VAV3-AS1,NBPF4,SLC25A24P1,NBPF6,FAM102B,FNDC7,AKNAD1,CLCC1,WDR47,TAF13,SARS,CELSR2,PSRC1,MYBPHL,PSMA5,SYPL2,CYB561D1,GPR61,GNAT2,AMPD2,GSTM4,GSTM5,GSTM3,EPS8L3,CSF1,AHCYL1,STRIP1,ALX3,SLC6A17,RBM15-AS1,RBM15,SLC16A4,KCNA3,OR11I1P,LRIF1,DRAM2,DENND2D,CHI3L2,CHIA,CHIAP3,OVGP1,WDR77,ATP5PB,C1orf162,LINC01160,INKA2,OLFM3,COL11A1,RNPC3,LINC01661,NTNG1,VAV3,SLC25A24,NBPF5P,SLC25A24P2,HENMT1,STXBP3,GPSM2,KIAA1324,SORT1,GNAI3,GSTM2,GSTM1,LINC01768,KCNC4,LAMTOR5-AS1,KCNA2,CD53,CHIAP2,TMIGD3,RAP1A,LINC01709,LINC01397,CEPT1
piccione_10_ASD_discovery_cases-case1
FISH
De novo
Unknown
Possibly segregated
COL11A1,RNPC3,AMY2B,AMY2A,AMY1A,AMY1C,AMY1B,PRMT6,NTNG1,VAV3,SLC25A24,NBPF4,NBPF6,FAM102B,HENMT1,PRPF38B,FNDC7,STXBP3,AKNAD1,GPSM2,CLCC1,WDR47,TAF13,TMEM167B,C1orf194,KIAA1324,SARS,CELSR2,PSRC1,MYBPHL,SORT1,PSMA5,SYPL2,ATXN7L2,CYB561D1,AMIGO1,GPR61,GNAI3,GNAT2,AMPD2,GSTM4,GSTM2,GSTM1,GSTM5,GSTM3,EPS8L3,CSF1,AHCYL1,FAM40A,ALX3,UBL4B,SLC6A17,KCNC4,RBM15,SLC16A4,HBXIP,PROK1,KCNA10,KCNA2,KCNA3,CD53,LRIF1,DRAM2,CEPT1,DENND2D,CHI3L2,CHIA,C1orf88,OVGP1,WDR77,ATP5F1,C1orf162,ADORA3,RAP1A,FAM212B,DDX20,KCND3,CTTNBP2NL
Controls
No Control Data Available
No Animal Model Data Available