20q13.2-q13.3CNV Type: Duplication
Largest CNV size: 6000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Duplication identified in a 5-year-old male patient with developmental delay and autism/autistic features (Utine et al., 2014); because the start and end points of this CNV were not provided in the original report, its precise gene content is unknown.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Duplication
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
utine_14_DD/ID/ASD_discovery_cases
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
100
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Range, 2-22 yrs. (mean age, 10.8 yrs.)
75% Male
6000000
0
1
1
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
utine_14_DD/ID/ASD_discovery_cases-case8
5 yrs.
M
Developmental delay and autism/autistic features
Referred at age of 1.5 years for developmental delay. Birth/neonatal history: delivered at 38 weeks of gestation with birth weight of 2750 g. Developmental milestones: head control at 2 months of age, sitting without support at 10 months of age, walking with support at 18 months of age; walked at 3.5 years of age. Language and communication evaluation: no words at age of 5 years. Behavioral/psychiatric evaluation: autism/autistic features. Epilepsy/seizures: no (doubtful seizure at age of 40 days). Brain imaging: normal. Dysmorphic features: long face with bitemporal narrowing, large ears, strabismus, thin upper lip, mildly elevated palate. Growth parameters: weight of 9.7 kg (3rd-10th %ile), height of 84 cm (75th %ile), and head circumference of 45 cm (<3rd %ile) at initial referral; remained microcephalic at follow-up visit. Family history: first child of healthy consanguineous parents; mother revealed to have balanced reciprocal translocation 46,XX,t(10;20)(q26.2;q13.2).
MIld DD/ID (mean area of delay/disability: global)
N/A
N/A
6000000
Unknown
Duplication
Yes
Controls
No Control Data Available
No Animal Model Data Available