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11p14.2-p13CNV Type: Deletion


Largest CNV size: 5600000 bp

Statistics Box:
Number of Reports: 1



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
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
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
 shinawi_11_ASD_discovery_cases
 Autistic patients (1 male, 1 female)
 2
 ASD (autistic female met CARS criteria; autistic male met ADI-R and ADOS criteria)
 Range, 6 yrs.-19.5 yrs.
 50% Male
 5600000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 shinawi_11_ASD_discovery_cases
  White Caucasian
 aCGH
  BACs aCGH (CMA/Baylor College of Medicine)
 
 CMA Version 6.1
 aCGH (Agilent 244K), 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
  shinawi_11_ASD_discovery_cases-patient4
 6 yrs.
 M
 ASD
 Diagnosed with ASD (ADOS & ADI-R criteria) at 6 yrs. Mild motor delay (sitting independently at 13 mo., walking at 17 mo.), moderate speech delay (speaking in phrases at 5 yrs.). Limited social interactions, rigidity in routine, stereotypic/ritualistic behaviors. Additional diagnosis of ADHD at 4 yrs (placed on Ritalin). Developmental intervention/special education employed. No seizures. Brain MRI showed mildly prominent lateral ventricles. Dysmorphic features: flat nasal bridge, ogival palate, short neck, brachydactyly. Congenital anomalies: aniridia. Normal hearing. Gluacoma. Growth percentiles: 40th OFC, >97th weight, 65th height.
 Moderate cognitive impairment.
 26133522
 31780895
  5647374
 GRCh38
 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
 shinawi_11_ASD_discovery_cases-patient4
 aCGH (Agilent 244K), FISH
 
 De novo
 Simplex
 NA
 MUC15,FIBIN,LIN7C,MIR8087,RNA5SP339,CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,SLC5A12,BBOX1,CCDC34,LINC00678,ARL14EP,MPPED2-AS1,DNAJC24,ANO3,BBOX1-AS1,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,METTL15,MPPED2,IMMP1L
 

Controls

No Control Data Available
No Animal Model Data Available
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