12p11.21-q11CNV Type: Deletion
Largest CNV size: 6500000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion in the 12p11.21-q11 region was identified in a proband with developmental delay and autism/autistic features as part of a screen of novel cases with 2p16.1-p15 microdeletion syndrome (Bagheri 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
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bagheri_16_DD/ID_discovery_cases
Eight novel cases with 2p16.1-p15 microdeletion syndrome
8
All eight cases presented with developmental delay (7/8 with intellectual disability, 7/8 with delayed language skills, 6/8 with microcephaly)
Range, 1 yr. 8 mos.-16 yrs.
87.50% Male
6500000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bagheri_16_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix CytoScan 750K, Affymetrix Cytogenetics Whole-Genome 2.7M, Affymetrix 6.0, Signature Genomics SignatureChipOSTM
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
bagheri_16_DD/ID_discovery_cases-case2
1 yr. 8 mos.
M
Developmental delay
Birth/neonatal history: feeding problems. Developmental milestones: developmental delay; delayed language skills. Motor and musculoskeletal evaluation: hypotonia; metatarsus adductus. Behavioral/psychiatric evaluation: autism/autistic features. Epilepsy/seizures: none reported. Dysmorphic features: metopic prominence or craniosynostosis, abnormal head shape, downslanting palpebral fissures, ptosis, telecanthus, long and straight eyelashes, abnormal nasal root (broad/high or other), large ears, high narrow palate. Growth parameters: microcephaly; OFC <3rd %ile.
Developmental delay
N/A
N/A
6500000
GRCh37
Deletion
No
Controls
No Control Data Available
No Animal Model Data Available