12q13.3-q14.3CNV Type: Deletion
Largest CNV size: 10122527 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion in this region was identified in an individual with autism and severe developmental delay.
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
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
FISH
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
lynch_11_DD_discovery_cases-case2
3 yrs. 8 mos.
F
Developmental delay + autism
Diagnosed with autism and significant behavioral difficulties (diagnostic tools/criteria NA). Birth/neonatal history: born weighing 1.93 kg at 37+4 weeks; failure to thrive from birth. Developmental milestones: severe developmental delay; sat independently at 1 year; started walking at 2 years. Language and communication: no speech; can express herself by showing what she wants. Motor and musculoskeletal evaluation: X-ray at 3 years showed no skeletal/bone abnormalities. Behavioral/psychiatric characteristics: hyperactivity; aversion to food and drink. Recurrent infections: several ear infections and pneumonia. Vision: bilateral convergent squint. Malformations: atrial septal defect. Dysmorphic features: relatively macrocephaly, short broad neck, frontal bossing, hypertelorism, upslanting palpebral fissures, high nasal bridge, short nose, flat philtrum, thin upper lip, large mouth, micrognathia, low set ears, single palmar crease on left hand, sacral dimple. Growth parameters (at 3 years): height, 81 cm (> -3.1 SD); weight, 9.9 kg (-3.4 SD); severe growth retardation.
Severe developmental delay. Diagnosed with moderate mental retardation.
57048355
67170886
10122532
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
lynch_11_DD_discovery_cases-case2
MLPA
Unknown (not maternal)
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,HNRNPA1P69,PABPC1P4,RPL36AP41,RNU6-1009P,RNU5A-7P,MIR548C,MIR548Z,RPL7P39,RNU6ATAC42P,RNU6-166P,APOOP3,KRT18P60,LINC02454,PCNPP3,MIR6074,LINC02425,RPL21P18,RNA5SP362,LLPH-DT,RBMS1P1,MIR6502,PDCL3P7,RN7SKP166,OSBPL9P5,RAB11AP2,MYO1A,NEMP1,STAT6,STAC3,INHBC,INHBE,ARHGAP9,MARS,MBD6,KIF5A,DTX3,SLC26A10,OS9,AGAP2,CDK4,METTL1,CTDSP2,LRIG3,LINC01465,AVPR1A,RXYLT1,RXYLT1-AS1,C12orf66,XPOT,LINC02389,LINC02231,WIF1,LEMD3,LLPH,TMBIM4,OSBPL9P4,LRP1,LRP1-AS,R3HDM2,DCTN2,TSFM,AVIL,ATP23,USP15,MON2,DPY19L2,C12orf56,TBK1,RASSF3,GNS,TBC1D30,MSRB3,RPSAP52,HMGA2,IRAK3,HELB,GRIP1,SLC16A7,FAM19A2,PPM1H,SRGAP1,LINC02388
Controls
No Control Data Available
No Animal Model Data Available