12q21.31-q21.32CNV Type: Duplication
Largest CNV size: 889669 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A maternally-inherited 12q21.31-q21.32 duplication was observed in a male patient presenting with global developmental delay (Tropeano et al., 2016).
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
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
tropeano_16_ASD/NDD_replication_cases
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
18857
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
N/A
BBGRE cohort, 67% Male; Hospit
889669
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
tropeano_16_ASD/NDD_replication_cases
United Kingdom and Canada
aCGH
Agilent 60K, OGT Cytosure 4x180K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
None
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/NDD_replication_cases-case23
4- 10 years
M
Developmental delay
Global developmental delay
85584333
86474003
889671
GRCh38
Duplication
No
Controls
No Control Data Available
No Animal Model Data Available