5pterCNV Type: Deletion
Largest CNV size: 8000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Deletion identified in a 11-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
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Deletion
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
8000000
1
0
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-case9
11 yrs.
M
Developmental delay and autism/autistic features
Referred at age of 11 years for motor and intellectual disability. Birth/neonatal history: born at term with birth weight of 2800 g. Developmental milestones: head control at 4 years of age, sitting with support at 4 years of age, sitting with support at 4 years of age, walking at 9.5 years of age, toilet training at 10 years of age, first words at 11 years of age. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism/autistic features; absent eye contact, no reaction to name, stereotypies. Epilepsy/seizures: no. Brain imaging: normal. Dysmorphic features: long face, high forehead, down-slanting palpebral fissures, prominent ears. Growth parameters: head circumference of 52 cm, height of 124 cm (<3rd %ile), and weight of 26.5 kg (<3rd %ile). Family history: born to healthy non-consanguineous parents; similarly affected younger sibling with same findings on microarray analysis (suggestive of possible balanced reciprocal translocation in one parent or germline mosaicism)
Severe DD/ID (mean area of delay/disability: global)
N/A
N/A
8000000
Unknown
Deletion
No
Controls
No Control Data Available
No Animal Model Data Available