6q25.3-q26CNV Type: Deletion
Largest CNV size: 2100000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo 6q25.3-q26 deletion affecting the PRKN gene was observed in a 1-month old patient of Turkish descent presenting with developmental delay (Ceylon et al., 2018).
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
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
2100000
1
0
1
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
4283434
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
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
ceylan_18_DD/ID_discovery_cases-case9
1 mo.
N/A
Developmental delay
Developmental milestones: developmental delay. Dysmorphic features: upslanting palpebral fissures, round face. Other findings: neonatal diabetus, hypotonia, deafness.
160292894
162454668
2161775
GRCh38
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case271
NA
M
Developmental delay
Developmental delay, microcephaly, cryptorchidism, synophrys, hirsutism
156512143
160795576
4283434
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
ceylan_18_DD/ID_discovery_cases-case9
De novo
AGPAT4-IT1,LPAL2,PLG,LPA,MAP3K4,AGPAT4,SLC22A3,PRKN
verberne_22_ASD/DD/ID_discovery_cases-case271
Unknown
ACAT2,SNX9,MRPL18,TULP4,ARID1B,TMEM181,ZDHHC14,RSPH3,LPAL2,SERAC1,SYTL3,FNDC1,TAGAP,SRP72P2,OSTCP1,PNLDC1,IGF2R,GTF2H5,SNORA29,SNORA20,TMEM242,CHP1P2,LINC02901,SOD2-OT1,LPA,MAS1,HNRNPH1P1,AIRN,TATDN2P2,LDHAL6FP,AMZ2P2,MIR3692,MIR3918,MIR4466,FNDC1-IT1,SYNJ2-IT1,EZR-AS1,PLG,MIR7161,LINC02529,TAGAP-AS1,SNX9-AS1,RN7SL173P,SLC22A3,SLC22A2,EZR,SOD2,TCP1,DYNLT1,SLC22A1,CACYBPP3,RNU6-293P,RNU6-786P,HSPE1P26,RNU4ATAC18P,SYNJ2,H3P28,TMEM242-DT,WTAP
Controls
No Control Data Available
No Animal Model Data Available