4q21.1-q21.22CNV Type: Deletion
Largest CNV size: 4800000 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 moderate 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
4800000
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-patient1
20 yrs.
M
Autism
Fulfilled DSM-IV criteria for autism. Delayed motor milestones, congenital malformations (Meckel diverticulum, ectopic testes, hypospadias, lumbar scoliosis, abnormal tooth position), facial dysmorphic features (convergent strabismus, short philtrum, retrognatism), postnatal short stature (-4 SD). Brain CT: periventricular calcifications. Brain MRI: cerebellar atrophy.
Moderate mental retardation (MR)
NA
NA
4800000
Unknown
Deletion
Yes
Controls
No Control Data Available
No Animal Model Data Available