4q21.23-q24CNV Type: Deletion
Largest CNV size: 16500000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
The precise breakpoints for this deletion, which was observed in an autistic male with mild intellectual disability, were not provided in the original report; as such, the exact gene content of this deletion 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...
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
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
16500000
1
0
1
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-patient5
11 yrs.
M
Autism
Fulfilled DSM-IV criteria for autism. Axial hypotonia, arthrogryposis, ectopic microtestes, congenital hip dislocation, large atrium septum defect. Delayed motor development. Scoliosis. Marked hypotonic face, two hair whorls, bilateral ptosis, microstomia, broad chest. Normal brain MRI.
Mild mental retardation (MR). Normal verbal IQ (VIQ 71), deficits in performance IQ (PIQ 54).
NA
NA
16500000
Unknown
Deletion
Yes
Controls
No Control Data Available
No Animal Model Data Available