12q13.3-q14.2CNV Type: Deletion
Largest CNV size: 6036607 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A deletion in this region was identified in an individual with developmental delay and autistic features.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Deletion
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
No Minor Reports
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
6029139
1
0
1
lynch_11_DD_discovery_cases
Patients referred with developmental delay for array analysis
2538
Developmental delay (DD)
NA
NA
6036607
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
lynch_11_DD_discovery_cases
NA
aCGH, array SNP
BlueGenome CytoChip (BACs aCGH), Affymetrix 6.0, Agilent 44K, NimbleGen 135K
BlueFuse for Microarrays V3.4, SignalMap V1.9, DNA Analytics V4.0.76, Genotyping Console V4.0
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-ISCA00005257
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
57013355
63042498
6029144
GRCh38
Deletion
Yes
lynch_11_DD_discovery_cases-case4
6 yrs. 5 mos.
M
Developmental delay + autistic features
Birth/neonatal history: born at 36 weeks weighing 1.9 kg. Developmental milestones: severe developmental delay. Language and communication: spoke no words at 2 years 9 months; single words and greater social interactions at 6 years 5 months; using sounds and definition by action very well at 6 years 5 months. Behavioral/psychiatric characteristics: hyperactivity, thought to be on the autistic spectrum; no interest in food; self-injurious behaviors (starting to bite arms); occasional frustation with communication. Recurrent infections: history of several upper respiratory tract infections. Dysmorphic features: marked widow's peak, upslanting palpebral fissures, pouty lower lip with protruding tongue; short, broad fingers and toes. Growth parameters (at 5 years 8 months): height, 105.5 cm; weight, 18.5 kg; OFC, NA. Family history: phenotypically-normal parents declined genetic testing.
Severe developmental delay
57043219
63079830
6036612
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005257
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NAB2,MIR1228,NXPH4,SHMT2,NDUFA4L2,RNU6-879P,GLI1,MIR6758,DDIT3,MIR616,PIP4K2C,ARHGEF25,B4GALNT1,RPL13AP23,AGAP2-AS1,TSPAN31,MIR6759,MARCH9,CYP27B1,EEF1AKMT3,RNU6-1083P,MIR26A2,RN7SKP65,LINC02403,RPL21P103,RPS6P22,RNU6-279P,RNU6-871P,LINC02448,RNU4-20P,DUX4L52,RPL21P104,KRT8P19,RPS3P6,KLF17P1,MIR6125,RNU6-595P,RNU6-399P,MIRLET7I,RPL32P26,GAPDHP44,RNU1-83P,RPL14P1,LDHAL6CP,MYO1A,NEMP1,STAT6,STAC3,INHBC,INHBE,ARHGAP9,MARS,MBD6,KIF5A,DTX3,SLC26A10,OS9,AGAP2,CDK4,METTL1,CTDSP2,LRIG3,LINC01465,TAC3,LRP1,LRP1-AS,R3HDM2,DCTN2,TSFM,AVIL,ATP23,USP15,MON2,SLC16A7,FAM19A2,PPM1H,LINC02388
lynch_11_DD_discovery_cases-case4
FISH
Unknown
NA
NA
NAB2,MIR1228,NXPH4,SHMT2,NDUFA4L2,RNU6-879P,GLI1,MIR6758,DDIT3,MIR616,PIP4K2C,ARHGEF25,B4GALNT1,RPL13AP23,AGAP2-AS1,TSPAN31,MIR6759,MARCH9,CYP27B1,EEF1AKMT3,RNU6-1083P,MIR26A2,RN7SKP65,LINC02403,RPL21P103,RPS6P22,RNU6-279P,RNU6-871P,LINC02448,RNU4-20P,DUX4L52,RPL21P104,KRT8P19,RPS3P6,KLF17P1,MIR6125,RNU6-595P,RNU6-399P,MIRLET7I,RPL32P26,GAPDHP44,RNU1-83P,RPL14P1,LDHAL6CP,RSL24D1P5,MYO1A,NEMP1,STAT6,STAC3,INHBC,INHBE,ARHGAP9,MARS,MBD6,KIF5A,DTX3,SLC26A10,OS9,AGAP2,CDK4,METTL1,CTDSP2,LRIG3,LINC01465,LRP1,LRP1-AS,R3HDM2,DCTN2,TSFM,AVIL,ATP23,USP15,MON2,SLC16A7,FAM19A2,PPM1H,LINC02388
Controls
No Control Data Available
No Animal Model Data Available