19q12-q13.3CNV Type: Deletion
Largest CNV size: N/A bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 19q12-q13.3 deletion was detected by karyotype and FISH analysis in a male ASD proband in Munnich et al., 2019.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
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
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
N/A
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
munnich_19_ASD_discovery_cases-case15
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by karyotype and FISH analysis (probe YAC 954B2 [provided by Human Polymorphism study Center], location 19q12; locus AFM150xa9).
N/A
N/A
N/A
GRCh37
Deletion
Yes
Controls
No Control Data Available
No Animal Model Data Available