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Xp22.33-p11.2CNV Type: Duplication


Largest CNV size: 55000000 bp

Statistics Box:
Number of Reports: 1



Summary Information

The precise breakpoints for this large duplication, identified in an autistic female with severe intellectual disability, were not provided in the original report; as such, the exact gene content of this deletion is unknown.

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Autism in two females with duplications involving Xp11.22-p11.23.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 edens_11_ASD_discovery_cases
 Two female ASD probands with medically refractory epilepsy and severe intellectual disability (ID)
 2
 ASD. Diagnosis based on Modified Checklist for Autism in Spanish & Autism Diagnostic Interview-Revised (ADI-R) (n=1), or Autism Diagnostic Observation Schedule (ADOS) & Social Communication Questionnaire (n=1)
 Range, 3-14 yrs.
 0% Male
 55000000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 edens_11_ASD_discovery_cases
  1 Honduran/Hispanic, 1 Austrian/European
 CMA
  N/A
 
 
 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
  edens_11_ASD_discovery_cases-case1
 14 yrs.
 F
 ASD
 Abnormal scores on Modified Checklist for Autism in Toddlers in Spanish & ADI-R. Social Communication Questionnaire-Spanish & Developmental Assessment of Young Children evaluations: at or below developmental quotient of 23 (range 10-23) with age equivalents at or below 43 mos. (range 18-43 mos). Developmental milestones: severe speech delay (at 14 yrs., usage of 10-20 single words or two-word phrases), motor delay (walked at 3 yrs.). Epilepsy (tonic-clonic seizures with focal and generalized onset started at 7 mos.; seizures currently well-controlled with valproate & topiamate). Neurological characteristics: aloofness, repetitive page-flipping. EEG: previously abnormal (two distinct wave patterns of isolated or 2-3 Hz bursts of irregular spike-wave complexes); EEG recently normalized. Brain MRI: right mesio-temporal sclerosis, cortical dysplasia. Other: no cranial nerve, cerebellar, motor, or sensory deficits. Dysmorphic features: broad face, midface hypoplasia, prominent forehead, widely spaced eyes, coarse facial features, eczema. Growth parameters: height, 139.5 cm (<3rd %ile); weight, 66 kg (90th %ile); head circumference, 55.5 cm (75th %ile).
 Severe intellectual disability (ID)
 NA
 NA
  55000000
 Unknown
 Duplication
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 edens_11_ASD_discovery_cases-case1
 
 
 Unknown
 Simplex
 Unknown
 NA
 

Controls

No Control Data Available
No Animal Model Data Available
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