18q12.11CNV Type: Duplication
Largest CNV size: 277000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
The precise breakpoints of this duplication, observed in a autistic patient with marked dysmorphism, were not provided in the original report; as such, the exact gene content of this duplication is unknown.
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
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
277000
0
1
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
gannon_11_ASD/DD_discovery_cases-patient7
ASD
Marked dysmorphism (Hypotonic facies, coarse facies, high forehead, down-slanted palpebral fissures, broad nose, and thick lips)
IQ70
NA
NA
277000
Unknown
Duplication
No
Controls
No Control Data Available
No Animal Model Data Available