Yq11.1CNV Type: N/A
Largest CNV size: 166346 bp
Statistics Box:
Number of Reports: 1
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
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
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
No Animal Model Data Available