6p25.2-p24.2CNV Type: Duplication
Largest CNV size: 8237000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A maternally-inherited duplication within this region was observed in a 16-year-old male patient presenting with congenital anomalies and dysmorphic features from a cohort of 337 Croatian patients presenting with developmental delay/intellectual disability (Sansovic et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No 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.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
8237000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
sansovic_17_DD/ID/ASD_discovery_cases-case63
16 yrs.
M
Congenital anomalies
Congenital anomalies, Dysmorphism
3089975
11327440
8237466
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sansovic_17_DD/ID/ASD_discovery_cases-case63
Maternal
TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,MIR7853,MIR5683,SNAPC5P1,CNN3P1,BTF3P7,RN7SL554P,HNRNPLP1,PIP5K1P1,RNU6ATAC21P,TFAP2A-AS2,TFAP2A-AS1,LINC00518,MIR5689,MRPL48P1,LINC02522,TMEM14C,RNA5SP203,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,LY86,RIOK1,DSP,TXNDC5,BLOC1S5,EEF1E1-BLOC1S5,EEF1E1,SLC35B3,TFAP2A,MIR5689HG,C6orf52,PAK1IP1,MAK,SYCP2L,ELOVL2-AS1,SMIM13,ERVFRD-1,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,LY86-AS1,RREB1,SNRNP48,BMP6,BLOC1S5-TXNDC5,OFCC1,GCNT2,TMEM14B,GCM2,ELOVL2,NEDD9,BPHL,LYRM4,F13A1,SSR1,CAGE1
Controls
No Control Data Available
No Animal Model Data Available