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9p13.1-q13CNV Type: Duplication


Largest CNV size: 27118744 bp

Statistics Box:
Number of Reports: 1



Summary Information

A duplication of unknown origin spanning this region was observed in a male patient born to non-consanguineous parents presenting with global developmental delay with dysmorphic features (Al-Qattan et al., 2014).

Additional Locus Information

USCS Symbol             NCBI Symbol

References

Title
Author, Year
Report Class
CNV Type

No Major Reports

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
 Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
 584
 Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
 N/A
 N/A
 27118744
 0
 1
 1
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
  Saudi Arabia
 Array SNP
  Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
 HMM
 Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
 None
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case10DG1455
 N/A
 M
 Developmental delay
 Global developmental delay with dysmorphic features, frontonasal dysplasia, short stature, spontaneous nystagmus, syndactyly, joint laxity, faint systolic murmur in aortic area. Non-consanguineous parents.
 Global developmental delay
 38916517
 67549861
  28633345
 GRCh38
 Duplication
 No
No Animal Model Data Available
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