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15q26.2-q26.3CNV Type: Deletion-Duplication


Largest CNV size: 7823755 bp

Statistics Box:
Number of Reports: 4



Summary Information

CNVs within this region were found in five 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

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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
Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
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
 7823755
 4
 1
 5
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 225000
 1
 0
 1
 poot_13_ASD_discovery_cases
 Follow-up report of female patient originally described in 2007 (Poot et al., Eur. J. Med. Genet.) with growth retardation and slight behavioral abnormalities
 1
 Diagnosis of autism on axis I (score 299) and intellectual impairment on axis II (score 319) according to DSM-IV criteria
 14 yrs.
 Female
 6870000
 1
 0
 1
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 5514000
 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
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 poot_13_ASD_discovery_cases
  Netherlands
 Solid phase hybridization
  Illumina Infinium HumanHap300 BeadChip
 
 
 FISH
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 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-ISCA00000851
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 94033008
 101843270
  7810263
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002188
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 96069425
 101849578
  5780154
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002201
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 96329791
 101849578
  5519788
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004057
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 97735430
 101810992
  4075563
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004848
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 96913979
 101843411
  4929433
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam973Proband9554
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 97893660
 98101993
  208334
 GRCh38
 Deletion
 No
  poot_13_ASD_discovery_cases-case1
 14 yrs.
 F
 ASD and ID
 Diagnosis of autism on axis I (score 299) according to DSM-IV criteria at age of 10.5 years. Birth/neonatal history: intrauterine growth retardation; birth weight -2 SD, birth length <-2 SD, birth OFC -2 SD. Developmental milestones: development with normal range up to age of 8 years. Motor and musculoskeletal evaluation: pes plano valgus, shorter left leg, restricted supination capacity in both elbows, 5th finger bilateral clinodactyly. Behavioral/psychiatric evaluation: slight behavioral abnormalities in original report (no neurological abnormalities detected); at age of 10.5 years, case showed uninhibited, compulsive and often socially inadequate behavior and tended to talk loudly; frequently seeked contact that often appeared not to be reciprocal; preference for tactile stimuli. Cardiac evaluation: open oval window, ventricular septal defect type II, valvular stenosis of the pulmonary artery. Dysmorphic features: asymmetric face and eye fissures, broad nasal tip, abnormal thumb implant; original report described micrognathia, long eyelashes, low nasal bridge and oculocutaneous albinism. Growth parameters: severe growth retardation at age of 8 years (length -4.5 SD, weight for height -4 SD, OFC -3 SD) prompted growth hormone treatment; re-evaluation of growth parameters at age of 14 years showed weight of 39.7 (+1.4 SD), height of 142 cm (-3.27 SD), and OFC of 56.2 cm (+1 SD).
 Diagnosis of intellectual impairment on axis II (score 319) according to DSM-IV crtieria at age of 10.5 years. First psychological evaluation at age of 5 years revealed IQ of 82 (on SON-R, a non-verbal IQ test); re-evaluation of IQ as part of psychiatric diagnostic work-up showed IQ between 58-71 (90th %ile), with verbal IQ between 69-82 (90th %ile) and performance IQ between 53-70 (90th %ile).
 N/A
 N/A
  6870000
 GRCh37
 Deletion
 Yes
  sansovic_17_DD/ID/ASD_discovery_cases-case58
 7 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies
 
 96326161
 101843270
  5517110
 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-ISCA00000851
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU2-3P,LINC02157,MIR1469,PGAM1P12,RN7SKP254,FAM149B1P1,SPATA8,RN7SKP181,RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,LINC01579,LINC01581,LINC01197,NR2F2-AS1,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,MCTP2,LINC00924,LINC02254,MEF2A,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002188
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC02157,MIR1469,PGAM1P12,RN7SKP254,FAM149B1P1,SPATA8,RN7SKP181,RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,NR2F2-AS1,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,LINC02254,MEF2A,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002201
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 MIR1469,PGAM1P12,RN7SKP254,FAM149B1P1,SPATA8,RN7SKP181,RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,LINC02254,MEF2A,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004057
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,MEF2A,TARSL2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004848
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,LINC02254,MEF2A,TARSL2
 
 nava_13_ASD_discovery_cases-Fam973Proband9554
 
 
 Paternal
 Simplex
 Unknown
 ARRDC4,RNU6-1186P,LINC01582,LINC02251
 
 poot_13_ASD_discovery_cases-case1
 FISH
 
 De novo
 
 
 NR2F2,SPATA8,ARRDC4,FAM169B,IGF1R,PGPEP1L,SYNM,TTC23,LRRC28,MEF2A,LYSMD4,ADAMTS17,CERS3,LINS,ASB7,ALDH1A3,LRRK1,CHSY1,VIMP,SNRPA1,PCSK6,TM2D3,TARSL2
 
 sansovic_17_DD/ID/ASD_discovery_cases-case58
 
 
 Unknown
 
 
 MIR1469,PGAM1P12,RN7SKP254,FAM149B1P1,SPATA8,RN7SKP181,RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,NR2F2-AS1,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,LINC02254,MEF2A,TARSL2
 

Controls

No Control Data Available
No Animal Model Data Available
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