6p22.1-p21.33CNV Type: Duplication
Largest CNV size: 111863 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Duplication of unknown origin identified in a patient presenting with intellectual disability as part of a screen for cases with 3p26.3 microduplications (Kashevarova et al., 2014).
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
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kashevarova_14_ASD/ID_discovery_cases
Two affected siblings and two additional unrelated patients with CNVs at the 3p26.3 locus
4
All four cases present with intellectual disability (ID); one case with an additional diagnosis of atypical autism (diagnostic tools N/A)
Range, 9-15 yrs.
50% Male
111863
0
1
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
624800
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kashevarova_14_ASD/ID_discovery_cases
N/A
aCGH
Agilent 60K
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
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
kashevarova_14_ASD/ID_discovery_cases-caseK_III-1
9 yrs.
M
Intellectual disability
Birth/neonatal history: born at 42 weeks gestation; birth weight of 3300 g (50th %ile), length of 53 cm (90th %ile), and head circumference of 35 cm (50th %ile); Apgar scores of 7. Developmental milestones: displayed physical and psychomotor developmental delays (sitting at 8 months, walking at 1 year 6 months, first words at 2 years, phrases at 5 years). Language and communication evaluation: speech delay; dysarthria. Motor and musculoskeletal evaluation: impaired fine motor skills, hyperkineses, hypermobility of small and large joints, hypotonia, scoliosis. Behavioral/psychiatric evaluation: hyperactivity until 1 year of age; attention deficit hyperactivity disorder. Brain imaging: computer tomography of the brain did not reveal organic lesions. Additional medical history: cardiologic examination revealed additional chord in left ventricle. Dysmorphic features: dolichocephaly, unusual and coarse hair, low posterior hairline, direct high and widely-set eyebrows, upslanting palpebral fissures, covergent strabismus, epicanthus, wide nasal bridge, small nose, low-set protruding ears with malformed helices, macrostomia, micrognathia, short philtrum, high palate, short neck, cryptorchidism, hypospadias. Growth parameters: height of 131 cm (50th %ile), weight of 25 kg (50th %ile), and head circumference of 50 cm (3rd %ile) at age of 9 years. Family history: 3p26.3 microduplication is also present in case's father and paternal grandmother, both of whom are apparently healthy.
IQ of 47
29794352
29906215
111864
GRCh38
Duplication
No
oikonomakis_16_ASD_discovery_cases-case41
12 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, hypotonia, increased tendon reflexes
29601515
30226374
624860
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
kashevarova_14_ASD/ID_discovery_cases-caseK_III-1
Unknown
Simplex
Unknown
HLA-V,HLA-P,RPL7AP7,MICG,HLA-G,HCG4P8,HCP5B,HLA-H,HLA-T
oikonomakis_16_ASD_discovery_cases-case41
Maternal
SUMO2P1,ZFP57,ZDHHC20P1,RPL23AP1,MICE,IFITM4P,HLA-V,HCG4,HLA-P,RPL7AP7,MICG,HLA-G,HCG4P8,HCP5B,HLA-H,HLA-T,DDX39BP1,MCCD1P1,HCG4B,HLA-K,HLA-U,HLA-A,HLA-W,MICD,HCG9,DDX39BP2,MCCD1P2,HLA-J,PPP1R11,RNF39,TRIM31,TRIM10,TRIM15,PAIP1P1,MOG,HLA-F,HLA-F-AS1,ETF1P1,ZNRD1,TRIM31-AS1,TRIM26,GABBR1,ZNRD1ASP,TRIM40
Controls
No Control Data Available
No Animal Model Data Available