HELP     Sign In

Yq11.1CNV Type: N/A


Largest CNV size: 166346 bp

Statistics Box:
Number of Reports: 1



Summary Information

Possible de novo CNV identified in a male patient with speech delay and a maternally-inherited deletion involving the CNTNAP2 gene

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Unknown

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al-murrani_12_DD_discovery_cases
 Second child born to non-consanguineous European couple with normal langauge development
 1
 Speech delay, mild motor delay, and behavioral problems resulting from communication difficulties
 3 yrs.
 Male
 166346
 
 
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 al-murrani_12_DD_discovery_cases
  European
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.0.1
 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
  al-murrani_12_DD_discovery_cases-case1
 3 yrs.
 M
 Speech delay
 Case referred to genetic service for opinion regarding an abnormal molecular karyotpye result. Birth/neonatal history: uneventful perinatal history, born at term. Developmental milestones: mild motor delay (walking at around 18-20 months), speech late to develop; able to pronounce six words at age of 2.5 years. Language and communication evaluation: uses up to 3 words in sentences; speech difficult to understand. Motor and musculoskeletal evaluation: speech therapist notd presence of reduced tone of orofacial musculature with associated tendency to dribble. Behavioral/psychiatric evaluation: behavioral problems resulting from communication difficulties. Auditory evaluation: normal hearing. Dysmorphic features: none. Growth parameters: normal growth. Family history: second child born to non-consanguineous European couple with normal language development; mother not affected by any learning or speech difficulties; 5-year-old brother with normal language development for his age, but reported to have difficulties in comprehension and following instructions. Mother and brother both carry 7q35/CNTNAP2 deletion.
 NA
 11589132
 11740448
  151317
 GRCh38
 Unknown
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 al-murrani_12_DD_discovery_cases-case1
 
 
 Possible de novo (not in father)
 Simplex
 Segregated
 
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.