2q23.1-q23.3CNV Type: Deletion
Largest CNV size: 5062212 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Deletion
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
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Previously unpublished patients with 2q23.1/MBD5 microdeletions from the Mayo Clinic Cytogenetics Laboratory (cases 1-8), the Greenwood Genetic Center (cases 9-12), Pathology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
5062212
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
5062212
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
FISH, qPCR, array SNP (Affymetrix Cytoscan HD Array )
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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-case7
25 yrs.
F
DD/ID/ASD
New phenotypic features: spina bifida.
148303135
153274626
4971492
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004913
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148303135
153274626
4971492
GRCh38
Deletion
Yes
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-case7
FISH
Unknown
Unknown
Unknown
RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,RNU6-601P,FABP5P10,MIR4773-2,MIR4773-1,RN7SL124P,RPL30P2,UBQLN4P2,ATP5PBP4,MMADHC,LINC01817,LINC01920,NMI,TNFAIP6,RIF1,ARL5A,ARL6IP6,MBD5,EPC2,LYPD6B,LYPD6,LINC01931,LINC01818,RND3,RBM43,NEB,STAM2,FMNL2,PRPF40A,KIF5C,CACNB4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004913
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,RNU6-601P,FABP5P10,MIR4773-2,MIR4773-1,RN7SL124P,RPL30P2,UBQLN4P2,ATP5PBP4,MMADHC,LINC01817,LINC01920,NMI,TNFAIP6,RIF1,ARL5A,ARL6IP6,MBD5,EPC2,LYPD6B,LYPD6,LINC01931,LINC01818,RND3,RBM43,NEB,STAM2,FMNL2,PRPF40A,KIF5C,CACNB4
Controls
No Control Data Available
No Animal Model Data Available