10p12.1-p11.23CNV Type: Deletion-Duplication
Largest CNV size: 3182206 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
CNVs within this region were found in two cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
3182206
1
1
2
toledo-gotor_22_DD_discovery_cases
Patient born to non-consanguineous Caucasian parents (father reported to have mild gait delay, but both parents were not known to have any genetic or chronic disease) presenting with DeSanto-Shinawi syndrome resulting from 10p12.1 microdeletion affecting WAC.
1
Case presented with developmental delay, autistic features, and stereotypy.
6 yrs.
Female
2494633
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
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
toledo-gotor_22_DD_discovery_cases
Spain
aCGH
Agilent 60K SurePrint G3 ISCA v2
NA
NA
None
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002223
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27046685
30228891
3182207
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004590
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27767970
30046085
2278116
GRCh38
Duplication
Yes
toledo-gotor_22_DD_discovery_cases-case1
6 yrs.
F
Developmental delay, autistic features, and stereotypy
Birth/neonatal history: born at 41 weeks gestation after uncomplicated pregnancy; Apgar scores of 10 and 10; birth weight 2970 g (10th %ile), birth length 50.5 cm (60th %ile), birth OFC 32 cm (10th %ile). Developmental milestones: developmental delay first noticed at 19 months of age; motor delay with delayed ability to crawl (14 months) and delayed ability to walk (not yet achieved at 19 months); delayed speech and language development (first words at 14 months, less than 10 words at 20 months). Motor and musculoskeletal evaluation: mild gross motor clumsiness, abnormal digit morphology. Behavioral/psychiatric evaluation: repetitive behavior patterns (such as turning lights on and off), sleep disturbance (snoring with occasional apnea, sleep terrors, enuresis), autistic behavior (difficulties with social development and social interaction), impulsivity, aggressive behavior with peers, hyperactivity, anxiety-related behavior. EEG: normal background with right middle temporal epileptiform activity without seizures. Dysmorphic features: synophrys, deeply set eyes, downslanted palpebral fissures, bulbous nose, depressed nasal bridge, posteriorly rotated ears, preauricular pits, tendency to keep her mouth open, protruding tongue, diastema, everted upper lip vermillion, hirsutism. Family history: born to non-consanguineous Caucasian parents; father reported to have mild gait delay, but both parents were not known to have any genetic or chronic disease.
27438700
29933332
2494633
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002223
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-490P,RNU2-24P,RNU7-12P,RNU6-666P,RNU6-452P,FAM210CP,TRIAP1P1,RN7SKP132,RPL36AP55,MRPS21P5,MIR8086,ZNF101P1,RPSAP10,RNU4ATAC6P,TPRKBP1,RNU6-1067P,BAMBI,RNU6-270P,LINC00837,RNA5SP308,RPL21P93,PTCHD3P1,MIR604,MIR938,CKS1BP2,RNU6-908P,MASTL,ACBD5,LRRC37A6P,PTCHD3,MKX,MKX-AS1,WAC-AS1,LYZL1,SVIL-AS1,ANKRD26,YME1L1,RAB18,ARMC4,RN7SKP39,WAC,LINC01517,SVIL,JCAD,ARMC4P1,MPP7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004590
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP132,RPL36AP55,MRPS21P5,MIR8086,ZNF101P1,RPSAP10,RNU4ATAC6P,TPRKBP1,RNU6-1067P,BAMBI,RNU6-270P,LINC00837,RNA5SP308,RPL21P93,PTCHD3P1,MIR604,MIR938,CKS1BP2,RNU6-908P,WAC-AS1,LYZL1,SVIL-AS1,ARMC4,RN7SKP39,WAC,LINC01517,SVIL,JCAD,MPP7
toledo-gotor_22_DD_discovery_cases-case1
Unknown
Simplex
WAC,ODAD2,LYZL1,MPP7,WAC-AS1,CKS1BP2,MKX,MRPS21P5,PTCHD3P1,RPSAP10,MIR604,RPL21P93,MIR938,RPL36AP55,ZNF101P1,LINC00837,RNA5SP308,TPRKBP1,LINC01517,MKX-AS1,SVIL-AS1,MIR8086,LINC02680,MPP7-DT,LINC02652,SVIL,RNU6-908P,RNU6-270P,RNU4ATAC6P,RN7SKP39,RN7SKP132,RNU6-1067P,RAB18,BAMBI
Controls
No Control Data Available
No Animal Model Data Available