18q22.2-q22.3CNV Type: Duplication
Largest CNV size: 460000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A paternally-inherited 18q22.2-q22.3 duplication that was classified as a variant of unknown significance-likely benign (VOUS-LB) was observed in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features in Maini et al., 2018.
Additional Locus Information
References
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
2900000
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
460000
0
1
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
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-case17
3 yrs.
M
ASD
Developmental milestones: speech delay, delay in social skills. Dysmorphic features: hypertelorism, broad nasal bridge, micrognathia. Other findings: diagnosis of autism spectrum disorder (hyperactivity, poor eye contact, stereotypical behaviors, deficits in communication). Growth parameters: head circumference 48 cm (10th %ile), height 93 cm (10th-25th %ile), weight 13 kg (10th-25th %ile).
70179768
73103806
2924039
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown77
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
70809656
71269190
459535
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
ceylan_18_DD/ID_discovery_cases-case17
De novo
LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,SOCS6,LINC01909,LIVAR,LINC01899,RTTN,GTSCR1,LINC01541,CBLN2,NETO1
maini_18_ASD/DD/ID_discovery_cases-case_unknown77
Paternal
Unknown
Unknown
Controls
No Control Data Available
No Animal Model Data Available