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3p25-p24.3CNV Type: Deletion


Largest CNV size: 200000 bp

Statistics Box:
Number of Reports: 2



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
Phenomic determinants of genomic variation in autism spectrum disorders.
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
 qiao_09_ASD_discovery_cases
 Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
 100
 ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
 Range, 2-40 yrs.
 76% Male
 200000
 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
 qiao_09_ASD_discovery_cases
  NA
 aCGH
  BACs aCGH
 
 
 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 3p25-p24.3 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, 15780362)
 NA (approximate end, 15940640)
  NA
 NCBI35
 Deletion
 Yes
  qiao_09_ASD_discovery_cases-case3
 Range, 11-15
 M
 Autism
 Phenotype Score: 6. Seizures. Growth parameters: postnatal large stature (>98th %ile), macrocephaly (OFC >98th %ile). Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies. Family history: multiplex immediate (MPX-I; sharing an ASD with another family member via a 1st degree co-relationship). Case also showed inv(3)(p24q24),t(5;7)(p15.1;p12.2) by karyotype analysis.
 Moderate intellectual disability (IQ between 35 & 50)
 15780358
 15940642
  200000
 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
 harvard_05_ASD_discovery_cases-case1
 Microsatellite analysis, FISH
 
 De novo
 Multiplex
 Not segregated (sister with ASD lacks deletion)
 Est. gene content: ANKRD28, MIR563
 
 qiao_09_ASD_discovery_cases-case3
 FISH
 
 De novo
 Multiplex
 
 ANKRD28
 

Controls

No Control Data Available
No Animal Model Data Available
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