2q33.1-q33.2CNV Type: Deletion
Largest CNV size: 3045250 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
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
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
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
3045250
1
0
1
zarate_21_DD/ID_discovery_cases
Individuals with Glass syndrome resulting from deletions involving the SATB2 gene
10
All patients presented with developmental delay/intellectual disability (DD/ID), while two patients also presented with epilepsy.
Range, 2-9 yrs.
50.0% Male
4372220
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
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
zarate_21_DD/ID_discovery_cases
NA
aCGH, array SNP
Agilent 44K, Agilent 180K, OGT CytoSure 60K, Affymetrix
FISH
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004480
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
200520961
203566211
3045251
GRCh38
Deletion
Yes
zarate_21_DD/ID_discovery_cases-caseSATB2-085
3.5 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: developmental delay/intellectual disability, delayed ability to walk (2 years). Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia, low bone density. Behavioral/psychiatric evaluation: sleeping difficulties, jovial personality, hyperactivity, aggressive outbursts. Additional medical history: feeding difficulties in infancy and at 3.5 years. Dysmorphic features: cleft palate, dental problems (large teeth, abnormal shape, dental crowding).
Developmental delay/intellectual disability
198810510
203182729
4372220
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004480
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU1-133P,RNU6-31P,BICD1P1,RNA5SP115,CLK1,RNU6-312P,RNU6-762P,HNRNPA1P35,RPL23AP30,RNU6-1206P,RPL17P10,IMPDH1P10,RNU7-45P,MTND5P25,MTND4P23,MTND4LP13,MTCO2P16,MTATP6P16,MTCO3P16,MTND3P16,MTND4LP16,MTND5P31,ENO1P4,RNU6-651P,UBE2V1P11,RNU6-440P,FZD7,PSMA2P3,DAZAP2P1,SNORD70,SNORD11B,SNORD11,RN7SL753P,RN7SL40P,MTCO1P17,MTCO2P17,MTATP6P17,MTCO3P17,MTND3P17,MTND4LP17,MTND4P30,MTCO1P54,KRT8P15,RPL7P14,RPL23AP36,RPL12P16,RN7SL670P,MRPL50P2,AOX3P,AOX3P-AOX2P,LINC01792,AOX2P,BZW1,PPIL3,NIF3L1,NDUFB3,CFLAR,CFLAR-AS1,CASP8,TRAK2,MTND4P29,TMEM237,MPP4,SUMO1,NOP58,ICA1L,CARF,SGO2,AOX1,ORC2,FAM126B,CASP10,STRADB,C2CD6,ALS2,CDK15,KIAA2012,BMPR2,FAM117B,WDR12,NBEAL1,CYP20A1,ABI2,RAPH1,ALS2CR12
zarate_21_DD/ID_discovery_cases-caseSATB2-085
FISH
De novo
BMPR2,CASP10,CASP8,CLK1,AOX1,NOP58,STRADB,PPIL3,ALS2,WDR12,NIF3L1,MPP4,CFLAR-AS1,NBEAL1,CDK15,CARF,TMEM237,MAIP1,PSMA2P3,TRAK2,KCTD18,FLACC1,ICA1L,TYW5,SATB2-AS1,SGO2,C2CD6,FAM117B,C2orf69,AOX2P,FAM126B,FTCDNL1,BICD1P1,PIMREGP1,KRT8P15,HNRNPA1P35,DAZAP2P1,SNORD70,SNORD11,KIAA2012-AS1,SNORD11B,SEPHS1P6,RPL7P14,RPL38P5,NDUFB3,ORC2,RNU7-45P,RPL39P14,RPL17P10,RPS2P16,RPL23AP30,RPL23AP36,RPL13AP12,SCYL2P1,LINC01792,KIAA2012,MTND5P31,MTND4P23,MTND4P30,MTND4P29,RNA5SP115,MTND5P25,ENO1P4,IMPDH1P10,KRT8P52,RNU6-31P,LINC01877,BZW1-AS1,UBE2V1P11,SUMO1,RN7SL753P,RNU6-762P,RNU6-312P,RNU6-651P,RNU7-147P,RN7SL40P,RN7SL717P,MTATP6P17,MTND4LP17,RNU6-1206P,MTATP6P16,MTCO3P16,MTND3P17,MTND4LP13,MTCO2P17,RNY4P34,RNU6-440P,MTCO2P16,RNU1-133P,MTCO1P17,MTND4LP16,MTCO3P17,MTCO1P54,MTND3P16,AOX3P-AOX2P,AOX3P,SNORD70B,CFLAR,FZD7,H3P8,BZW1,SPATS2L,SATB2
Controls
No Control Data Available
No Animal Model Data Available