11q24.2-q24.3CNV Type: Deletion
Largest CNV size: 2899000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo deletion in the 11q24.2-q24.3 region was detected in a female ASD patient.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guerin_12_ASD_discovery_cases
Patient referred to clinic (Hospital for Sick Children, Toronto, Canada) with a history of sagittal craniosynostosis, perimembranous ventricular septal defect with patent foramen ovale and autism spectrum disorder (ASD).
1
Diagnosis of ASD made at age of 4 years using ADOS (Autism Diagnostic Observation Schedule). Patient also displays clinical manifestations consistent with Jacobsen syndrome.
4 yrs.
Female
2899000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
3181076
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guerin_12_ASD_discovery_cases
European
CMA
aCGH (Agilent 4x44K)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
guerin_12_ASD_discovery_cases-case1
4 yrs.
F
ASD
Diagnosis of ASD made at age of 4 years using ADOS. Birth/neonatal history: uncomplicated pregnancy, no abnormalities detected on fetal ultrasounds, negative prenatal screening for Down syndrome and open neural tube defects; delivery was spontaneous, vaginal, at term, and uncomplicated; birth weight 75th %ile; developed respiratory distress at 24 hr of life and was found to have a ventricular septal defect (VSD); sagittal craniosynostosis noted at 1-2 days of life (repaired at 4 months of age). Developmental milestones: early motor milestones reportedly within normal range; significant delays in receptive and expressive langauge and diffculties in social interaction and eye contact became apparent at 2 years of age. Cardiac evaluation: grade 2/6 systolic murmur. Visual and auditory evaluation: normal. Dysmorphic features: facial characteristics consistent with Jacobsen syndrome, including trigonocephaly, hypertelorism with deep-set eyes, prominent supraorbital ridges. Family history: parents were healthy, non-consanguineous, and of European descent.
126897774
129797236
2899463
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000921
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
125891315
129072391
3181077
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guerin_12_ASD_discovery_cases-case1
aCGH (Agilent 4x44K)
De novo
Simplex
Likely segregated
MIR3167,KIRREL3-AS3,RN7SKP121,RN7SKP279,MIR6090,ETS1-AS1,SENCR,C11orf45,RNU6-876P,RNU6-874P,ZNF123P,RPS27P20,KIRREL3-AS2,LINC02098,KCNJ5,TP53AIP1,BARX2,LINC01395,ETS1,FLI1,KCNJ1,KIRREL3,ARHGAP32
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000921
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
VSIG10L2,NAP1L1P1,RNU4-86P,RN7SL351P,SRPRA,RPL35AP26,MIR3167,KIRREL3-AS3,RN7SKP121,RN7SKP279,MIR6090,ETS1-AS1,SENCR,C11orf45,RNU6-876P,HYLS1,PUS3,DDX25,RPUSD4,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3-AS1,KIRREL3-AS2,LINC02098,KCNJ5,TP53AIP1,CDON,FAM118B,GSEC,ETS1,FLI1,KCNJ1,KIRREL3,ARHGAP32
Controls
No Control Data Available
No Animal Model Data Available