12q12-q13.11CNV Type: Deletion
Largest CNV size: 7961778 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion within this region was found in a case 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
Minor Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
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
7961778
1
0
1
lee_21_DD/ID/EP_discovery_cases
Patients evaluated at the Medical Genetic Center of the Asan Medical Childrens Hospital, Seoul, Korea, from March 2018 to October 2020 for pathogenic variants or microdeletions in the components of the SWI/SNF complex.
564
Cases presented with neurodevelopmental disorders, including developmental delay (DD), intellectual disability (ID), and epilepsy (EP).
NA
NA
3663029
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
lee_21_DD/ID/EP_discovery_cases
Korea
CMA
ThermoFisher CytoScan 750KK
NA
ThermoFisher ChAS
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-ISCA00004743
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38590101
46551898
7961798
GRCh38
Deletion
Yes
lee_21_DD/ID/EP_discovery_cases-case11
15 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: small for gestational age. Developmental milestones: developmental delay, language delay. Additional medical history: ventricular septal defect, inguinal hernia, feeding difficulties. Dysmorphic features: sparse hair, thick eyebrows, epicanthus, hypertelorism, flat and broad nasal bridge, low-set ears, long philtrum, large mouth, thick lips, micrognathia. Growth parameters: short stature, microcephaly.
Mild intellectual disability
42612189
46275217
3663029
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-ISCA00004743
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CPNE8-AS1,RPL30P13,LINC02555,RNU6-713P,RNA5SP360,MTND2P17,MTND1P24,LINC02400,MIR7851,RNU6-249P,RPS27P21,MRPS36P5,EEF1A1P17,ZNF75BP,RACGAP1P,RNA5SP361,RN7SL246P,KNOP1P2,LINC02406,LINC02471,GXYLT1,ZCRB1,LINC02402,LINC02451,LINC02450,LINC02461,PUS7L,TWF1,DBX2,PLEKHA8P1,SCAF11,SLC38A2,KIF21A,ABCD2,LRRK2,MUC19,PDZRN4,YAF2,PPHLN1,PRICKLE1,ADAMTS20,IRAK4,NELL2,ANO6,ARID2,SLC38A1,CPNE8,C12orf40,SLC2A13,CNTN1,TMEM117
lee_21_DD/ID/EP_discovery_cases-case11
De novo
IRAK4,PLEKHA8P1,RACGAP1P1,SLC38A1,TMEM117,PUS7L,ADAMTS20,ARID2,ANO6,MRPS36P5,DBX2,EEF1A1P17,NELL2,RPS27P21,KNOP1P2,SSBL3P,RNA5SP361,LINC02402,TWF1,LINC02451,LINC02461,LINC02450,RN7SL246P,ZNF75BP,DBX2-AS1,SCAF11
Controls
No Control Data Available
No Animal Model Data Available