9p12CNV Type: Deletion
Largest CNV size: 1794827 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Deletion identified in a female patient with mental retardation
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
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
1794827
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
mosrati_12_ASD/MR_discovery_cases-caseV6
22 yrs.
F
Mental retardation
Behavioral and psychiatric evaluation: no autistic traits. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; two brothers with autistic traits and hearing loss (one brother with additional diagnosis of mental retardation).
Moderate mental retardation (MR)
40540764
42335591
1794827
Unknown
Deletion
No
Controls
No Control Data Available
No Animal Model Data Available