8q23.1-q24.12CNV Type: Deletion
Largest CNV size: 10084000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo deletion within this locus was observed in an 18-year-old male patient from a cohort of 337 Croatian patients presenting with developmental delay/intellectual disability (Sansovic et al., 2017).
Additional Locus Information
References
Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
13298534
1
0
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
10084000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_300607
N/A
F
Developmental delay/intellectual disability
107436509
120735030
13298522
GRCh38
Deletion
Yes
sansovic_17_DD/ID/ASD_discovery_cases-case38
18 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
108925411
119009132
10083722
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_300607
qPCR
Unknown
PGAM1P13,RNA5SP275,NRBF2P4,RPS17P14,ENY2,MAPK6P5,RPSAP48,NDUFB9P3,MTCO1P47,EEF1A1P37,SERPINA15P,RNU4-37P,RPL30P16,MIR2053,CARSP2,RNA5SP276,RAD21-AS1,MIR3610,AARD,RN7SL228P,RN7SL826P,RPS10P16,RPS26P35,RNU6-12P,MIR548AZ,CYCSP23,RN7SKP153,RN7SL396P,RNA5SP277,NCAPGP1,EMC2,TRHR,EBAG9,RAD21,MED30,TNFRSF11B,MAL2,MAL2-AS1,DSCC1,MRPL13,ANGPT1,EIF3E,TMEM74,NUDCD1,PKHD1L1,SYBU,KCNV1,LINC01608,LINC02237,TRPS1,LINC00536,EIF3H,UTP23,SLC30A8,EXT1,SAMD12-AS1,COLEC10,ENPP2,TAF2,DEPTOR,COL14A1,MTBP,RSPO2,LINC01609,CSMD3,SAMD12,SNTB1
sansovic_17_DD/ID/ASD_discovery_cases-case38
De novo
ENY2,MAPK6P5,RPSAP48,NDUFB9P3,MTCO1P47,EEF1A1P37,SERPINA15P,RNU4-37P,RPL30P16,MIR2053,CARSP2,RNA5SP276,RAD21-AS1,MIR3610,AARD,RN7SL228P,RN7SL826P,RPS10P16,RPS26P35,RNU6-12P,TRHR,EBAG9,RAD21,MED30,TNFRSF11B,NUDCD1,PKHD1L1,SYBU,KCNV1,LINC01608,LINC02237,TRPS1,LINC00536,EIF3H,UTP23,SLC30A8,EXT1,SAMD12-AS1,COLEC10,LINC01609,CSMD3,SAMD12
Controls
No Control Data Available
No Animal Model Data Available