4q32-q34CNV Type: Deletion
Largest CNV size: 19000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A large de novo deletion stretching from the 4q32 locus to the 4q34 locus was identified in an autistic male. However, the precise breakpoints for this deletion were not provided.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor...
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
ramanathan_04_ASD_discovery_cases
Autistic male proband, youngest of three children born to non-cosanguineous couple.
1
ASD (DSM-IV criteria in evaluation using ADOS-G and ADI-R)
15 yrs.
Male
19000000
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
ramanathan_04_ASD_discovery_cases-AU0052-0201
15
M
ASD
Diagnosis of autism (DSM-IV criteria, ADOS-G and ADI-R) at 11 yrs. 10 mo. Birth weight and height in 50th pecentile. Metatarsus adductus & calcaneovalgus of left foot, bilateral 2nd-3rd toe syndactyly & bilateral cryptorchidism noted at birth. Delayed motor milestones (sitting at 6 mo, standing at 15-18 mo, walking at 20 mo) attributed to casting on left foot for correction of metatarsus adductus. Minor dysmorphic features (noted at 12 mo.): nose, bilateral 5th finger clinodactyly, short 5th metatarsals bilaterally. Head circumference from age 1-12: <5th percentile; head circumference at 15 yrs: 35th percentile. Severe language deficits (first words at 2 yrs., non-verbal communications). Scores from language testing (PPVT-IIIA & PLS-3) at 11 yrs 10 mo.: auditory comphrension age of 4 yrs. 6 mo., expression language communication age of 3 yrs. 10 mo.
Stanford-Binet Scales of Intelligence (4th ed.) composite score of 59
19000000
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
ramanathan_04_ASD_discovery_cases-AU0052-0201
Microsatellite analysis
De novo
Simplex
NA
At least 33 genes [including AMPA2 (GRIA2), GLRA3, GLRB, NPY1R, & NPY5R]
Controls
No Control Data Available
No Animal Model Data Available