2q33.3-q34CNV Type: Deletion
Largest CNV size: 6323952 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Autistic and Rett-like features associated with 2q33.3-q34 interstitial deletion
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
jang_15_DD/ID_discovery_cases
Second child born to non-consanguineous parents with non-contributory family history presenting with a de novo 2q33.3-q34 deletion.
1
Case presented with developmental delay (expressive-receptive language delay and gross motor delay), moderate intellectual disability, autistic features, and stereotypical hand movements.
4 yrs. 7 mos.
Female
5932695
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
1152217
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
6323952
1
0
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
0
0
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
jang_15_DD/ID_discovery_cases
Korea
aCGH
Roche NimbleGen 3x720K
NA
Axon GenePix Pro 6.0
None
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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
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
jang_15_DD/ID_discovery_cases-case1
4 yrs. 7 mos.
F
Developmental delay, intellectual disability, autistic features, and stereotypy
Birth/neonatal history: born at 37 weeks gestation by spontaneous vaginal delivery following an uncomplicated pregnancy with a birth weight of 2.70 kg (5-10th %ile), length of 49 cm (40-50th %ile), and head circumference of 32 cm (5-10th %ile). Developmental milestones: could sit alone but could not stand, even with support, at 15 months; first steps at 24 months; expressive-receptive language delay (both <1st %ile) and gross motor delay (<3rd %ile) at 30 months. Motor and musculoskeletal evaluation: generalized hypotonia. Behavioral/psychiatric evaluation: bruxism and repetitive movements involving the left hand at 30 months; autistic traits, Rett-like features. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: downslanting palpebral fissures, high forehead, small mouth, high palate. Growth parameters: microcephaly (head circumference <1st %ile) with height 79 cm (50-60th %ile) and weight 10.2 kg (40-50th %ile) at 15 months; microcephaly (head circumference <1st %ile) with normal height and weight at 41 months. Family history: second child born to non-consanguineous parents; normal older sister; non-contributory family history.
Moderate intellectual disability
205475203
211407897
5932695
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002656
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
208179265
209331482
1152218
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case23269
NA
NA
ASD
NA
NA
207584984
213908936
6323952
Unknown
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
jang_15_DD/ID_discovery_cases-case1
De novo
Simplex
Segregated
ACADL,CRYGB,CPS1,CRYGC,CRYGD,CREB1,EEF1B2,ERBB4,CRYGFP,CRYGA,SNORD51,CPS1-IT1,INO80D,ZDBF2,PARD3B,HSPA8P6,RPSAP27,CPO,MDH1B,CCNYL1,KANSL1L,METTL21A,PIKFYVE,CRYGEP,FAM237A,IDH1,CMKLR2,RPL12P17,UNC80,C2orf80,PLEKHM3,DYTN,PKP4P1,SNORA41,RPS29P9,RPS27P10,ACER2P1,RPL27P8,HNRNPA1P51,PPP1R14BP2,TPT1P2,MAP2,NDUFS1,MYL1,ATP5POP1,RPL9P14,RPL6P6,ARPC1BP1,GCSHP3,MIR1302-4,VPS26CP1,MIR3130-2,MIR3130-1,MIR2355,MYL6BP1,MIR4775,IDH1-AS1,RNA5SP117,RNA5SP116,RNA5SP118,HMGN1P6,MEAF6P1,KLF7-IT1,KANSL1L-AS1,RPE,PTH2R,MIR7845,LANCL1-AS1,LINC01857,MYOSLID,LINC01802,RN7SKP260,RN7SKP178,RNU6-664P,RNU6-360P,RN7SKP200,PPIAP68,NRP2,FZD5,KLF7,ADAM23,H3P9,SNAI1P1,LANCL1,FASTKD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002656
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPSAP27,TPT1P2,IDH1-AS1,MYL6BP1,RNA5SP117,HSPA8P6,CRYGFP,MEAF6P1,PKP4P1,C2orf80,IDH1,PIKFYVE,PTH2R
rosenfeld_10_ASD_discovery_cases-case23269
FISH
Unknown
Unknown
Unknown
KLF7,CREB1,METTL21A,CCNYL1,FZD5,PLEKHM3,CRYGD,CRYGC,CRYGB,CRYGA,C2orf80,IDH1,PIKFYVE,PTH2R,MAP2,UNC80,RPE,C2orf67,ACADL,MYL1,LANCL1,CPS1,ERBB4,IKZF2,LOC100130451,SPAG16
Controls
No Control Data Available
No Animal Model Data Available