5q11.2-q12.2CNV Type: Deletion
Largest CNV size: 5000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
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
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
hodge_13_DD/ID/ASD_discovery_cases
Previously unpublished patients with 2q23.1/MBD5 microdeletions from the Mayo Clinic Cytogenetics Laboratory (cases 1-8), the Greenwood Genetic Center (cases 9-12), Pathology Associates Medical Laboratories (cases 13-14), Virginia Commonwealth University (case 15), Fullerton Genetics Center (case 16), and Boston Children's Hospital (case 17)
17
Phenotypes typically associated with 2q23.1 microdeletion syndrome (developmental delay/intellectual disability (DD/ID), ASD or autistic features, etc.). Two cases with bipolar disorder, one case with behavioral regression.
Range, <1 yr.-44 yrs.
52.94% Male
5000000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
hodge_13_DD/ID/ASD_discovery_cases
N/A
aCGH, array SNP
Agilent 180K, Agilent 44K, Agilent 105K, Oxford Gene Technology Plus 105K, Affymetrix 6.0, Affymetrix Cytoscan HD
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
hodge_13_DD/ID/ASD_discovery_cases-case11
20 yrs.
F
DD/ID/ASD
New phenotypic features: flat occiput.
59070199
64102229
5032031
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
hodge_13_DD/ID/ASD_discovery_cases-case11
De novo
Unknown
Unknown
NDUFB4P2,MIR582,RNU6-806P,SETP21,CAB39P1,KRT8P31,GNL3LP1,RNU6-913P,RN7SKP157,RNU6-661P,CKS1BP3,LRRC70,ISCA1P1,HTR1A,PART1,ERCC8,SMIM15,RPL3P6,DEPDC1B,NDUFAF2,SMIM15-AS1,LINC02057,ZSWIM6,C5orf64,C5orf64-AS1,KIF2A,DIMT1,IPO11,PDE4D,ELOVL7
Controls
No Control Data Available
No Animal Model Data Available