15q24CNV Type: Duplication
Largest CNV size: 2300000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Deletion-Duplication
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.
Duplication
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
el-hattab_09_ASD_discovery_cases
Patient referred to the Medical Genetics Laboratories of Baylor College of Medicine for aCGH analysis
1
Asperger syndrome (diagnostic criteria/tools NA), ADHD, and mild mental retardation
15 yrs.
Male
2620000
0
1
1
el-hattab_09_DD_discovery_cases
Patients referred to the Medical Genetics Laboratories of Baylor College of Medicine for aCGH analysis (n=2), and patients referred to Cytogenetic Laboratory of Cincinnati Children's Hospital Medical Center for SNP analysis.
4
Developmental delay
Range, 33 mos.-14 yrs.
75% Male
3686000
2
2
4
el-hattab_09_MR_discovery_cases
Patients referred to the Medical Genetics Laboratories of Baylor College of Medicine for aCGH analysis
2
Mental retardation
Range, 5 mos.-9 yrs.
50% Male
3950000
2
0
2
roetzer_10_ASD_discovery_cases
13 yr. old male diagnosed with autism, developmental delay, and ADHD
1
Patient diagnosed with autism at 11 yrs. (ADOS)
13
Male
2300000
0
1
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
el-hattab_09_ASD_discovery_cases
Caucasian
aCGH
CMA V7 OLIGO
FISH, aCGH (Agilent 244K)
el-hattab_09_DD_discovery_cases
NA
aCGH, solid phase hybridization
CMA V6 OLIGO, CMA V7 OLIGO, Illumina 370K Beadchip
FISH, aCGH (Agilent 244K)
el-hattab_09_MR_discovery_cases
NA
aCGH
CMA V6 OLIGO
FISH, aCGH (Agilent 244K or CMA V.7 OLIGO)
roetzer_10_ASD_discovery_cases
Caucasian
aCGH
Agilent 180K
ADM-2
Agilent DNA Analytics 4.0.76
qPCR
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
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
el-hattab_09_ASD_discovery_cases-case5
15 yrs.
M
Asperger syndrome
Behavioral problems: Asperger syndrome (diagnostic criteria/tools NA), ADHD. Motor and musculoskeletal evaluation: increased muscle tone (hypertonia); decreased range of motion of elbows, wrist and fingers. EEG: normal. Brain MRI: normal. Dysmorphic features: long face, down-slanting palpebral fissures, epicanthus, full puffy hooded eyelids, ptosis, high nasal bridge, smooth philtrum, full lower lip, high arched palate, crowded teeth, retrognathia, broad thumbs, blunt finger tips, hyperconvex nails, broad feet. Growth parameters: short stature. Karyotype: normal. Family history: mother reported to have depression; father reported to have schizophrenia.
Mild mental retardation (IQ 71)
72628605
75252606
2624002
GRCh38
Duplication
Yes
el-hattab_09_DD_discovery_cases-case1
33 mos.
M
Developmental delay
Developmental milestones: mild delay. Motor and musculoskeletal evalutation: hypotonia. Other medical concerns and comorbidities: acute lymphoblastic leukemia, feeding difficulties, hepatomegaly. Dysmorphic features: high anterior hair line, broad forehead, sparse eyebrows, epicanthus, depressed nasal bridge, long smooth philtrum, ful lower lips, ear lobe pit, small hands. Growth parameters: short stature.
Mild developmental delay
74172606
77857603
3684998
GRCh38
Deletion
Yes
el-hattab_09_DD_discovery_cases-case3
14 yrs.
M
Developmental delay
Developmental milestones: delayed. Language and communication evaluation: soft nasal speech. Motor and musculoskeletal evaluation: hypotonia, joint laxity, pectus carinatum. Recurrent infection: recurrent ear infections. Other medical concerns and comorbidities: hypospadias, velo-pharyngeal insufficiency, feeding difficulties. Dysmorphic features: down-slanting palpebral fissures, epicanthus, small mouth, thick and small ears, ear lobe pit, long 1st toes and short 2nd toes, cafe au lait spots. Growth parameters: normal growth.
Developmental delay
72670606
75776604
3105999
GRCh38
Deletion
Yes
el-hattab_09_DD_discovery_cases-case6
3.5 yrs.
M
Developmental delay
Developmental milestones: mildly delayed. Motor & musculoskeletal evaluation: truncal hypotonia, lower extremities hypertonia. Recurrent infections: recurrent sinusitis, bronchitis, and otitis. Dysmorphic features: round face, large occiput, plagiocephaly, hypertelorism, flat nasal bridge, prominent ears, ear tag, tapering fingers. Growth parameters: normal growth. Family history: sister with developmental delay, truncal hypotonia, and characteristic facial features; mother descrbed as slow learner and attended special education classes in school.
Mild global developmental delay
75778604
77889603
2111000
GRCh38
Duplication
Yes
el-hattab_09_DD_discovery_cases-case7
2 yrs.
F
Developmental delay
Developmental milestones: mildly delayed. Motor & musculoskeletal evaluation: truncal hypotonia. Other medical concerns & comorbidites: gastro-esophageal disease. Dysmorphic features: round face, hypertelorism, epicanthus, prominent ears, tapering fingers. Growth parameters: normal growth. Family history: brother with developmental delay, truncal hypotonia, lower extremity hypertonia, and characteristic facial features; mother descrbed as slow learner and attended special education classes in school.
Mild developmental delay
75778604
77889603
2111000
GRCh38
Duplication
Yes
el-hattab_09_MR_discovery_cases-case2
5 mos.
F
Mental retardation
Motor and musculoskeletal evaluation: clubfeet. Other medical concerns and comorbidities: myelomeningocele, hydrocephalus, tetralogy of Fallot. Dysmorphic features: frontal bossing, brachycephaly, hypertelorism, epicanthus, broad upturned nasal tip, small mouth, overriding 2nd toes, clinodactyly. Growth parameters: short stature.
Mental retardation
74050606
78000603
3949998
GRCh38
Deletion
Yes
el-hattab_09_MR_discovery_cases-case4
9 yrs.
M
Mental retardation
Motor and musculoskeletal evaluation: hypotonia, joint laxity, pes planus. Behavioral/psychiatric evaluation: aggressive behavior. Recurrent infections: recurrent ear infections. Other medical concerns and comorbidities: microphallus. Dysmorphic features: facial asymmetry, round face, smooth philtrum, cup-shaped protruding ears, brachymesopalangy II and V, clinodactyly, caf-au-lait spots, acanthosis nigricans. Growth parameters: obesity.
Moderate mental retardation
72628605
75776604
3148000
GRCh38
Deletion
Yes
roetzer_10_ASD_discovery_cases-case1
13
M
Autism
ASD/ADHD: developmental delay, profound speech delay, hyperactivity, aggressive behavior, stereotypic movements, scream attacks; mild hypotonia; dysmorphic features: deep set eyes, hooded eyelids, epicanthus, bilateral strabismus (surgically corrected), bulbous nose tip, smooth philtrum, full lower lip, prominent ears, hypermobile tapering fingers, proximally placed thumbs, clinodactyly of the halluces, highly positioned 2nd toes.
Developmental delay
75719117
78049700
2330584
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
el-hattab_09_ASD_discovery_cases-case5
FISH, aCGH (Agilent 244K)
Unknown (not maternal)
Unknown
Unknown
RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LINC02259,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
el-hattab_09_DD_discovery_cases-case1
FISH
De novo
Unknown
Possibly segregated
ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,UBL7,SCAPER,PTPN9
el-hattab_09_DD_discovery_cases-case3
FISH, aCGH (Agilent 244K)
De novo
Unknown
Possibly segregated
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
el-hattab_09_DD_discovery_cases-case6
FISH
Maternal
Multiplex
Segregated
RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
el-hattab_09_DD_discovery_cases-case7
FISH
Maternal
Multiplex
Segregated
RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,SCAPER
el-hattab_09_MR_discovery_cases-case2
FISH, aCGH (CMA V.7 OLIGO)
Unknown
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,RN7SL214P,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,ADAMTS7P3,TBC1D2B,UBL7,SCAPER,PTPN9
el-hattab_09_MR_discovery_cases-case4
FISH, aCGH (Agilent 244K)
De novo
Unknown
Possibly segregated
RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,LINC02259,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
roetzer_10_ASD_discovery_cases-case1
qPCR
Maternal
NA
NA
DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,TYRO3P,ISL2,MIR3713,RN7SKP217,RN7SL278P,KRT8P23,CSPG4P13,RN7SL214P,ODF3L1,DNM1P49,FBXO22,PSTPIP1,LINGO1-AS1,LINGO1-AS2,UBE2Q2,NRG4,TMEM266,ETFA,RCN2,TSPAN3,PEAK1,HMG20A,LINGO1,ADAMTS7P3,TBC1D2B,SCAPER
Controls
No Control Data Available
No Animal Model Data Available