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3p12.1-p11.1CNV Type: Deletion


Largest CNV size: 3050 bp

Statistics Box:
Number of Reports: 1



Summary Information

This deletion was identified in a patient with developmental delay and dysmorphic features; however, as the precise breakpoints for this deletion were not provided in the original report, the gene content of this CNV is unknown.

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 3050
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None

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
  gannon_11_ASD/DD_discovery_cases-patient4
 
 
 Developmental delay
 Marked dysmorphism (Prominent forehead and flat nasal bridge)
 IQ70
 NA
 NA
  3050
 Unknown
 Deletion
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 gannon_11_ASD/DD_discovery_cases-patient4
 
 
 Unknown
 Unknown
 
 NA
 

Controls

No Control Data Available
No Animal Model Data Available
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