10q22.1-q22.3CNV Type: Deletion
Largest CNV size: 5200000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 10q22.1-q22.3 deletion was identified in a 4-year-old Lithuanian female presenting with developmental delay and hypotonia (Egle et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
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
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
5200000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
egle_16_DD/ID_discovery_cases-case10_1
4 yrs.
F
Developmental delay
Muscular hypotonia, minor facial anomalies
Developmental delay
72477175
77662508
5185334
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
egle_16_DD/ID_discovery_cases-case10_1
FISH or RT-PCR
De novo
RN7SL840P,HMGN2P34,MIR4676,NPM1P24,RPL17P50,SNORA11F,EIF4A2P2,MRPS16,RNU6-833P,RPL26P6,RNU6-883P,RPS26P41,MYOZ1,RNA5SP320,GLUD1P3,DUSP8P5,CHCHD1,ZSWIM8-AS1,PLAU,C10orf55,TIMM9P1,RPSAP6,RAB5CP1,MRPL35P3,NDUFA8P1,POLR3DP1,FAM32CP,PPIAP13,RPS26P42,RPL39P25,HMGA1P5,ZNF503-AS2,MIR606,RN7SL518P,RNU6-673P,ATP5MC1P8,KCNMA1-AS2,COX6CP15,RNA5SP321,OIT3,PLA2G12B,P4HA1,NUDT13,FAM149B1,DNAJC9,DNAJC9-AS1,MSS51,PPP3CB,PPP3CB-AS1,AGAP5,BMS1P4,SEC24C,FUT11,NDST2,CAMK2G,AP3M1,DUPD1,VDAC2,SPA17P1,KCNMA1-AS3,MICU1,MCU,ECD,CFAP70,USP54,SYNPO2L,ZSWIM8,VCL,KAT6B,DUSP13,SAMD8,COMTD1,ZNF503-AS1,ZNF503,KCNMA1-AS1,ANXA7,ADK,KCNMA1,LRMDA
Controls
No Control Data Available
No Animal Model Data Available