18q12CNV Type: Deletion
Largest CNV size: NA bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detect...
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
harvard_05_ASD_discovery_cases
Male proband from multiplex ASD family
1
Diagnosis of ASD based on DSM-IV criteria, CARS, and ADI-R (made at 7 yrs. 3 mos.). Case also exhibits mild ID and ADHD.
13 yrs. 7 mos.
Male
NA
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
harvard_05_ASD_discovery_cases
Canadian
aCGH
Spectral Genomics (G) Chip 1-Mb resolution array
Genepix Pro 4.0 software, Spectralware BAC Array Analysis Software v.2.0
Microsatellite analysis, FISH
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
harvard_05_ASD_discovery_cases-case1
13 yrs. 7 mos.
M
ASD
Diagnosis of ASD based on DSM-IV criteria, CARS, and ADI-R (made at 7 yrs. 3 mos.); reassessment at 13 yrs. 7 mos. using ADOS module 3 revealed scores above cut-off for ASD. Birth/neonatal history: fourth of four pregnancies; born at term by induced vaginal delivery after uncomplicated pregnancy. Developmental milestones: normal early gross motor milestones (sitting at 6 months, cruising at 9 months); unsteady gait, poor balance and coordination apparent by 17 months; oral motor apraxia. Continued significant developmental delay in all areas noted at 7 years 3 months. Language and communication evaluation: moderate-to-severe language delay; receptive language at 2.5-3 yr level (testing at 4 yrs. 2 mos. of age); expressive language at 18-21 month level (testing at 4 yrs. 2 mos. of age). Motor skills and musculoskeletal evaluation: mild hypotonia and walking with a wide-based gait at 2 years 8 months; persistent hypotonia at 4 years 2 months. Behavioral/psychiatric characteristics: ADHD (proband prescribed Ritalin at 6 yrs., improved attention and ability to focus observed at 7 yrs. 3 mos.); extreme aggression; problems with reciprocal social interactions (abnormal eye contact with non-family members, lack of insight, awkwardness in social settings, self-stimulatory and atypical behaviors); prescribed Respiradol since 9 years of age for behavioral management and Celexa since age 10-11 years. Epilepsy/seizures: one generalized seizure at 9 years of age with prolonged postictal episode; no subsequent seizures. EEG (at 9 yrs): abnormal with background dysrhythmic and asymmetric, compatible with an area of irritability in right occipital area. Brain MRI: normal. Dysmorphic features: corase facies, mild frontal bossing, prominence of supraorbital ridges, hypertelorism, large ears with thickened scaphohelices bilaterally, broad and high nasal root, high-arched palate, clefted chin, single occipital hair whorl, bilateral tight heel cords, mild equinovarus deformity. Growth parameters: height, 98th %ile; weight, 95th %ile; OFC, >98th %ile. Family history: healthy parents; 15-yr-old sister with ASD (lacks 18q12 deletion); two healthy older siblings; maternal aunt with schizophrenia; maternal uncle with Down syndrome. Other genetic characteristics: complex karyotype with two chromosomal rearrangments [t(5;7)(p15.1; p12.2) and inv(3)(p24q24)].
Cognitive testing at 4 yrs. 2 months using Stanford-Binet: overall socres in borderline range (2.5 year level), with better performance on visually based tasks. Vineland Adaptive Behavior Scale (at 4 yrs. 2 mos.): overall composite score equivalent to 1 yrs 9 mos. (mild intellectual disability range).
NA (approximate start, 32375885)
NA (approximate end, 32552502)
NA
NCBI35
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
harvard_05_ASD_discovery_cases-case1
Microsatellite analysis, FISH
Paternal
Multiplex
Not segregated
Est. gene content: FHOD3
Controls
No Control Data Available
No Animal Model Data Available