1q31.1-q31.2CNV Type: Duplication
Largest CNV size: 2400000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
The precise breakpoints for this duplication, identified in a female with autism and mild intellectual disability, were not provided in the original report; therefore, the gene content of this duplication is unknown.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spe...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
jacquemont_06_ASD_discovery_cases
Patients diagnosed with syndromic autism selected by clinical geneticists or child psychiatricians of Necker-Enfants Malades Hospital in Paris, France (n=28) and from the PARIS study (n=1).
29
Patients diagnosed with syndromic autism. DSM-IV criteria met for autism, PDD-NOS, or Asperger syndrome.
NA
58.62% Male
2400000
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
3248448
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
jacquemont_06_ASD_discovery_cases
France
aCGH
BACs aCGH (1 Mb resolution array)
FISH
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
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
jacquemont_06_ASD_discovery_cases-patient14
20 yrs.
F
Autism
Fulfilled DSM-IV criteria for autism. Delayed motor milestones, non-verbal. Thin synophris, low-set ears. Normal brain CT.
Mild mental retardation (MR)
NA
NA
2400000
Unknown
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
N/A
M
Developmental delay and epilepsy
Agenesis of the corpus callosum, simplified gyral pattern and seizures, developmental delay and history of failure to thrive, microcephaly, feeding difficulties, multiple congenital anomalies
Developmental delay
189205211
192453659
3248449
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
jacquemont_06_ASD_discovery_cases-patient14
FISH
Unknown
Unknown
Unknown
NA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
Unknown
RNA5SP73,HNRNPA1P46,LINC01680,LINC01351,RGS18,RGS21,BRINP3,LINC01720,LINC01701
Controls
No Control Data Available
No Animal Model Data Available