15p11.1-q11.1CNV Type: Deletion
Largest CNV size: 581324 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A study presenting 45 individuals with 16p13.11 duplications reported a non-genic 15p11.1-q11.1 deletion as being an additional CNV observed in a 10-year-old male presenting with ASD, developmental delay, and learning disabilities (Allach El Khattabi et al., 2018).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
2027553
1
2
3
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
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
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
10 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: birth weight < 3rd %ile, length < 3rd %ile, OFC 10th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: club feet. Behavioral/psychiatric evaluation: ASD. Additional medical history: testicular ectopia, renal duplication. Dysmorphic features: delayed dental eruption. Family history: father's phenotype was not reported.
Learning disabilities
18884236
19465559
581324
GRCh37
Deletion
No
Controls
No Control Data Available
No Animal Model Data Available