2q37.1-q37.2CNV Type: Duplication
Largest CNV size: 885272 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication of unknown origin affecting the 2q37.1-q37.2 chromosomal region was observed in a female case diagnosed with pervasive developmental disorder (Tropeano et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
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
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
885272
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
tropeano_16_ASD_discovery_cases-MAAS16
20-29 yrs.
F
ASD
Case diagnosed with pervasive developmental disorder (PDD) based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 1.
234641351
235526623
885273
GRCh38
Duplication
Yes
Controls
No Control Data Available
No Animal Model Data Available