1p36.23-p36.22CNV Type: Duplication
Largest CNV size: 213000 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
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
2355163
2
0
2
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
213000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0955
N/A
M
Intellectual disability
Intellectual disability with dysmorphic features, short stature, low weight, grade II systolic murmur (mitral valve prolapse & mitral regurgitation), vitiligo of both hands, large rough nevus on the back. Consanguineous parents from same tribe. Similarly affected sibling (13DG0956), father presents with similar dysmorphic features.
Intellectual disability
8365461
10720627
2355167
GRCh38
Deletion
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0956
N/A
M
Intellectual disability
Intellectual disability with dysmorphic features, short stature, low weight, low IGF-1, delayed bone age. Consanguineous parents from same tribe. Similarly affected sibling (13DG0955), father presents with similar dysmorphic features.
Intellectual disability
8355867
10724061
2368195
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam694Proband7926
N/A
M
ASD
Additional clinical profile info N/A
ID
9174084
9387312
213229
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0955
Paternal
Paternal
Multi-generational
Segregated
RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,MIR5697,PGAM1P11,RNU6-828P,RNU6-37P,RN7SL731P,CORT,RN7SL614P,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,PGD,CENPS-CORT,CENPS,DFFA,SLC2A5,MIR34AHG,SPSB1,SLC25A33,PIK3CD,NMNAT1,UBE4B,KIF1B,CASZ1,PEX14,RERE
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0956
Paternal
Paternal
Multi-generational
Segregated
RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,MIR5697,PGAM1P11,RNU6-828P,RNU6-37P,RN7SL731P,CORT,RN7SL614P,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,PGD,CENPS-CORT,CENPS,DFFA,SLC2A5,MIR34AHG,SPSB1,SLC25A33,PIK3CD,NMNAT1,UBE4B,KIF1B,CASZ1,PEX14,RERE
nava_13_ASD_discovery_cases-Fam694Proband7926
Maternal (mother with seizures)
Simplex
Unknown
LNCTAM34A,H6PD,MIR34AHG,SPSB1
Controls
No Control Data Available
No Animal Model Data Available