19p13.13-p13.12CNV Type: Deletion
Largest CNV size: 724906 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
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study
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
jouret_22_DD/ID_discovery_cases
Individuals with de novo deletions affecting the BRD4 gene (from an initial cohort of 14 patients with BRD4 variation) organized in an international collaborative project with the European Reference Network Ithaca (www. ern-ithaca.eu), reinforced by the collaboration of the French Cytogenetic Society network (ACLF).
6
Two cases were medically terminated fetuses (due to multiple congenital anomalies); the remaining four cases all presented with developmental delay (DD), with one case also presenting with intellectual disability (ID).
Range, fetus-20 yrs.
50% Male
2167542
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
724906
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
jouret_22_DD/ID_discovery_cases
NA
CMA
CGH 4x44K, 6x60K, 8x60K, 4x180K, Agilent microarrays
NA
NA
qPCR, FISH
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
jouret_22_DD/ID_discovery_cases-case6
Fetus
F
MCA
Fetus that was medically terminated at 24 weeks gestation. Motor and musculoskeletal evaluation: 2-3 bilateral syndactyly. Additional medical history: atrioventricular septal defect. Dysmorphic features: arched and sparse eyebrows, short nose, anteverted nares, preauricular enchondroma, low forehead, early fetal hair and eyelashes. Growth parameters: microcephaly (<-2 SD).
13283685
15451226
2167542
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001013
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
13533925
14258833
724909
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
jouret_22_DD/ID_discovery_cases-case6
qPCR, FISH
De novo
CACNA1A,ADGRE5,OR7A8P,OR7A15P,AKAP8L,OR7A3P,OR7A17,OR7C1,OR7A5,OR7C2,OR7A11P,ADGRE2,C19orf53,ASF1B,CC2D1A,WIZ,PODNL1,ZSWIM4,EPHX3,BRME1,ZNF333,YJU2B,OR7A18P,MRI1,MISP3,SAMD1,SYDE1,ADGRE3,DCAF15,OR1I1,RLN3,EEF1DP1,CCDC105,DNAJB1,MIR23AHG,PALM3,NANOS3,CLEC17A,OR7A10,OR7A2P,OR7A1P,OR10B1P,MIR181C,MIR27A,MIR24-2,MIR23A,MIR181D,C19orf67,MIR639,SNRPGP15,NOTCH3,NDUFB7,MIR1470,ITGB1P1,ADGRL1-AS1,PKN1,PTGER1,RFX1,PRKACA,LINC01842,MIR6795,MIR1199,LINC01841,SLC1A6,RN7SL842P,RN7SL337P,RN7SL231P,RN7SL619P,RNU6-782P,ILVBL-AS1,TECR,DDX39A,IL27RA,ILVBL,ADGRL1,GIPC1,AKAP8,CASP14,BRD4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001013
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,CCDC130,C19orf57,ADGRL1,CACNA1A
Controls
No Control Data Available
No Animal Model Data Available