15q11.2-q14CNV Type: Duplication
Largest CNV size: 17730000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A de novo duplication involving the 15q11.2-q14 region was identified in a female patient with ASD, seizures, hypotonia, and corpus callosum hypoplasia.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
17730000
0
1
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
17730000
0
1
1
urraca_13_ASD_discovery_cases
Subjects with interstitial 15q11-q13 duplications recruited through the Dup15 Alliance
14
11 subjects with a diagnosis of autism or ASD, 1 subject with a diagnosis of ADHD
Range, 3-16 yrs.
57.14% Male
12700000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
urraca_13_ASD_discovery_cases
10 Caucasian, 2 African-American, 1 Hispanic, 1 Pacific Islander
aCGH, array SNP
Signature Genomics SignatureChipOS array, Affymetrix 6.2
None
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
oikonomakis_16_ASD_discovery_cases-case59
4 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hypotonia, obesity, microstomia, long eyelashes, hirsutism, microretrognathia, short nose, seizures, partial corpus callosum dysplasia
20643808
38758077
18114270
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case35
F
ASD + Epilepsy
Long eylashes, microstomia, microretrognathia, highly arched palate, corpus callosum hypoplasia, delayed myelinosis, hypotonia, seizures, obesity, ASD
20643808
38758077
18114270
GRCh38
Duplication
No
urraca_13_ASD_discovery_cases-case801-004
16 yrs. 9 mos.
F
ASD
ADOS calibrated severity score: 8. EEG: normal. Dysmorphic features: long nose, wide nasal bridge, bulbous nose, short philtrum, full cheeks. Neurological findings: attention deficit, OCD.
Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 70
N/A
N/A
12700000
GRCh37
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
oikonomakis_16_ASD_discovery_cases-case59
De novo, maternal origin
RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HNRNPA1P71,PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,NANOGP8,PRELID1P4,NUTF2P6,RBM17P4,MIR3942,HNRNPA1P45,MIR4510,COX6CP4,TPST2P1,MIR8063,LINC01852,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,SCG5,GREM1,TMCO5B,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,ZNF770,ANP32AP1,LARP4P,CSNK1A1P1,TMCO5A,FAM98B,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,FMN1,AVEN,KATNBL1,AQR,DPH6,MEIS2,LINC02345,SPRED1,RASGRP1,LINC01193,GABRG3,HERC2,FAM189A1,GOLGA8R,DPH6-DT,C15orf41,C15orf53,SNHG14,RYR3
tzetis_12_DD/ID_discovery_cases-case35
De novo (Maternal origin)
Unknown
RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HNRNPA1P71,PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,NANOGP8,PRELID1P4,NUTF2P6,RBM17P4,MIR3942,HNRNPA1P45,MIR4510,COX6CP4,TPST2P1,MIR8063,LINC01852,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,SCG5,GREM1,TMCO5B,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,ZNF770,ANP32AP1,LARP4P,CSNK1A1P1,TMCO5A,FAM98B,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,FMN1,AVEN,KATNBL1,AQR,DPH6,MEIS2,LINC02345,SPRED1,RASGRP1,LINC01193,GABRG3,HERC2,FAM189A1,GOLGA8R,DPH6-DT,C15orf41,C15orf53,SNHG14,RYR3
urraca_13_ASD_discovery_cases-case801-004
De novo, maternal chromosome
Unknown
Likely segregated
Controls
No Control Data Available
No Animal Model Data Available