7q31.1-q31.32CNV Type: Deletion
Largest CNV size: 8000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Deletion identified in a 7.5-year-old male patient with developmental delay (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, although the MET gene is included within the boundaries of this deletion.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Etiological yield of SNP microarrays in idiopathic intellectual disability.
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
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-case3
7.5 yrs.
M
Developmental delay
Developmental milestones: language delay; delayed motor development (sat without support at 8-9 months, walked independently at 2 years). Language and communication evaluation: had only two words, but able to understand and obey parental commands. Behavioral/psychiatric evaluation: reported to be an active child, being irritable sometimes during the day; no autism or autistic features. Epilepsy/seizures: no. EEG: normal. Brain imaging: normal brain MRI. Auditory evaluation: normal. Growth parameters: weight of 18 kg (3rd-10th %ile), height of 115 cm (10th-25th %ile), and head circumference of 48.5 cm (3rd %ile).
Severe DD/ID (main area of delay/disability: language)
N/A
N/A
8000000
Unknown
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
utine_14_DD/ID/ASD_discovery_cases-case3
RT-PCR
De novo
Unknown
Possibly segregated
Multiple genes, including FOXP2
Controls
No Control Data Available
No Animal Model Data Available