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11p14.3-p14.1CNV Type: Deletion


Largest CNV size: 6600000 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_ADHD_discovery_cases
 Patient diagnosed with ADHD, Combined Type
 1
 ADHD
 45 mo.
 Male
 6600000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 shinawi_11_ADHD_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_ADHD_discovery_cases-patient1
 45 mo.
 M
 ADHD
 Diagnosed with ADHD, Combined Type at 7 months. No diagnosis of autism (based on direct observations & reports from mother). No motor delay, moderate speech delay (speech apraxia). ABC checklist revealed increases in irritability, lethargy/withdrawal, stereotypic behaviors, & hyperactivity. No seizures. Feeding difficulties/failure to thrive during 1st year of life. Dysmorphic features: exophthalamos. Congenital anomalies: pyloric stenosis, inguinal hernia, urethral diverticulum, glaucoma. Growth percentiles: head circumference 35th, weight 92nd, length 80th. Normal muscle tone & strength, intact cranial nerves & deep tendon reflexes.
 Borderline cognitive impairment. Bayley Scales of Infant Development (at 28 months of age) equivalent to 19 month child.
 24650080
 31284456
  6634377
 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_ADHD_discovery_cases-patient1
 aCGH (Agilent 244K), FISH
 
 De novo
 Unknown
 NA
 RPL36AP40,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,LUZP2,ANO3,BBOX1-AS1,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,METTL15,MPPED2
 

Controls

No Control Data Available
No Animal Model Data Available
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