12q13.3-q15CNV Type: Deletion
Largest CNV size: 10116624 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion in this region was identified in an individual with moderate 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-case1
11 yrs.
F
Developmental delay
Birth/neonatal history: born by C-section at 36 weeks weighing 2.05 kg; failure to thrive led to provisional diagnosis of Silver-Russell syndrome. Developmental milestones: sat independently at 18 months; "bottom shuffled" until 4 years; speech delay (predominantly expressive). Language and communication: significant expressive speech delay; unable to read & write. Motor & musculoskeletal evaluation: mild scoliosis. Behavioral/psychiatric characteristics: hyperactivity; pleasant & friendly personality. Brain MRI: small anterior pituitary gland detected. Malformations: patent ductus. Other medical concerns: growth hormone deficiency. Vision: covergent squint. Gastrointestinal evaluation: suffers from gastrointestinal reflux, previously suffered from constipation. Dysmorphic features: relative macrocephaly, high nasal bridge, long eyelashes, cupid's bow, clinodactyly, broad terminal phalanges, 5th finger clinodactyly bilaterally. Growth parameters (at 7 yrs. 11 mos.): height, 101.5 cm (-4.21 SD); weight, 14.2 kg (-4.42 SD); OFC, 53.2 cm (+1.13 SD).
Moderate developmental delay
57512810
67629437
10116628
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-case1
FISH
De novo
NA
Possibly segregated
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,GGTA2P,MRPL40P1,NTAN1P3,LINC02420,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,CAND1,LINC02442,DCTN2,TSFM,AVIL,ATP23,USP15,MON2,DPY19L2,C12orf56,TBK1,RASSF3,GNS,TBC1D30,MSRB3,RPSAP52,HMGA2,IRAK3,HELB,GRIP1,LINC02408,SLC16A7,FAM19A2,PPM1H,SRGAP1,LINC02388
Controls
No Control Data Available
No Animal Model Data Available