5p15.33-p15.32CNV Type: Deletion
Largest CNV size: 4790000 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Neither the size nor the precise breakpoints for this deletion, which was observed in au autistic female with dysmorphic features and developmental delay, were provided in the original report; as such, the exact gene content of this deletion is unknown.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
de_carvalho_24_DD/ID_discovery_cases
Patients evaluated between 2011 and 2014 from the Medical Genetic Clinic of SGM/HUPES/UFBA (Bahia) and collaborating institutions, Albert Sabin Children's Hospital (Ceara), State Secretariat of Public Health of Rio Grande do Norte, Potiguar University (UNP/Rio Grande do Norte), and Association of Parents and Friends of Exceptional People, Sao Luiz (Maranhao).
119
Intellectual disability with or without dysmorphic features, as well as normal karyotype and fragile X exams, was the inclusion criteria for participating in this study.
4561147
0
1
1
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
5548560
3
1
4
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
5056981
0
1
1
schaefer_10_ASD_discovery_cases
Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
68
Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
NA
1
0
1
zhang_15_ASD/ADHD/DD/ID_discovery_cases
Probands from three multigenerational families carrying 5p terminal deletions transmitted to an autosomal dominant manner causing variable clinical findings
3
Proband III-1 from family I diagnosed with ASD and ADHD; proband II-1 from family II presented with mild-to-moderate intellectual disability and microcephaly; proband II-4 from family III presented with developmental delay and microcephaly
Range, 2 yrs. 6 mos.-5 yrs. 9 mos.
66.67% male
4790000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
351198
0
1
1
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
de_carvalho_24_DD/ID_discovery_cases
Brazil
CMA
Illumina Scan Sqsistem, Illumina Human CytoSNP-12 BeadChip
Illumina GenomeStudio v.2010.1, KaryoStudio v.1.4.3.0 Build 37 (CNV Plugin v.3.0.7.0)
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
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
schaefer_10_ASD_discovery_cases
aCGH
Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
GenePix Pro 6.0, SpectralWare CGH analysis software
FISH
zhang_15_ASD/ADHD/DD/ID_discovery_cases
N/A
Array SNP
Affymetrix 6.0
Genotyping Console v4.0, ChAS v2.0 (Affymetrix)
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
de_carvalho_24_DD/ID_discovery_cases-case4
13 yrs.
M
Developmental delay and intellectual disability
Developmental milestones: neuropsychotropic delay. Dysmorphic features: craniosynostosis, low anterior hair implantation, additional dysmorphic features.
Intellectual disability
38141
4599287
4561147
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000880
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3502990
4580491
1077502
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002067
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54839
5603401
5548563
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004428
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
49778
4768868
4719091
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005095
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22149
4580491
4558343
GRCh38
Deletion
Yes
levchenko_22_DD/ID_discovery_cases-caseD898
NA
F
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided.
113461
5170441
5056981
GRCh38
Duplication
No
schaefer_10_ASD_discovery_cases-case9
NA
F
Autism
Complex (syndromic) autism. Speech delay. Hypertelorism, flat mid-face, up-slanted palpebral fissures, very blue sclerae, micrognathia, large & widely-spaced teeth, congenital heart disease, clinodactyly.
Developmental delay
NA
NA
NA
Unknown
Deletion
Yes
zhang_15_ASD/ADHD/DD/ID_discovery_cases-familyIII_probandII-4
3 yrs.
M
Developmental delay
Birth/neonatal history: born at 39 weeks gestation to a 29-year-old G4P4 mother; Apgar score of 7 at 1 min and 8 at 5 min; admitted to NICU for history of poor feeding, bradycardia and hoarse cry due to transient bilateral vocal cord dysfunction; weight of 2630 g (3rd %ile), length of 45 cm (<3rd %ile), and OFC of 32 cm (<3rd %ile) upon admission to NICU. Developmental milestones: walked at approximately 22 months of age. Language and communication evaluation: able to express about 10 words and make simple 2 and 3 word sentences at age of 3 years. Motor and musculoskeletal evaluation: proband is able to run and occasionally climb stairs by himself, but is uncoordinated; bilateral 5th finger clinodactyly. Brain imaging: brain MRI was unremarkable. Additional medical history: hospitalized at age of 2 years 6 months for croup and stridor. Dysmorphic features: microcephaly, epicanthal folds, upslanting palpebral fissures, micrognathia, small philtrum, periorbital puffiness, intraorbital creases, simple auricles. Growth parameters: weight of 11.6 kg (1st %ile), length of 91 cm (10th-20th %ile), and OFC of 45.7 cm (1st %ile) at age of 3 years 11 months. Family history: proband's father (I-1) is positive for 5p15.33-p15.32 deletion and was in special education for learning difficulties and behavioral issues; proband's sister II-1 is positive for 5p15.33-p15.32 deletion and is reported to have learning difficulties and ADHD; proband's sister II-2 is negative for the deletion and was diagnosed with bipolar disorder and ADHD; proband's brother II-3 is negative for the deletion and had unilateral vocal cord paralysis at birth, small hole in heart, and was reported to have behavioral issues; proband's mother has no health or cognitive problems.
17630
4805686
4788057
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
N/A
N/A
Control
No previous psychiatric history
4263002
4614200
351199
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
de_carvalho_24_DD/ID_discovery_cases-case4
Unknown
IRX4,CEP72,AHRR,ZDHHC11,IRX1,BRD9,MRPL36,LPCAT1,CLPTM1L,NKD2,EXOC3-AS1,CCDC127,C5orf38,IRX2,PLEKHG4B,LINC01019,SLC6A19,SLC6A18,LRRC14B,SDHAP3,ZDHHC11B,NDUFS6,SLC9A3-AS1,SPCS2P3,MIR4277,MIR4456,MIR4457,LINC01511,MIR4635,CEP72-DT,LSINCT5,LINC02116,IRX4-AS1,LINC01377,PDCD6-DT,LINC01017,MIR6075,LINC02063,LINC02162,SDHA,SLC9A3,TERT,SLC6A3,MTCO2P32,BRD9P2,PDCD6-AHRR,TRIP13,PDCD6,TPPP,EXOC3,SLC12A7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000880
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01017,IRX1,LINC02063,LINC01019
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002067
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,LINC02063,LINC02114,LINC02121,RN7SKP73,CTD-2297D10.2,ALG3P1,MTCO1P30,MTCO2P30,MTCO1P31,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,LINC01020,ICE1,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38,ADAMTS16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004428
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,LINC02063,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005095
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,LINC02063,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38
levchenko_22_DD/ID_discovery_cases-caseD898
Unknown
IRX4,CEP72,AHRR,ZDHHC11,IRX1,BRD9,MRPL36,LPCAT1,CLPTM1L,NKD2,EXOC3-AS1,CCDC127,C5orf38,IRX2,PLEKHG4B,ADAMTS16,LINC01019,SLC6A19,LINC01020,SLC6A18,LRRC14B,SDHAP3,ZDHHC11B,NDUFS6,SLC9A3-AS1,SPCS2P3,MIR4277,MIR4456,MIR4457,LINC01511,MIR4635,CEP72-DT,LSINCT5,LINC02116,IRX4-AS1,LINC02114,ADAMTS16-DT,LINC01377,PDCD6-DT,LINC01017,MIR6075,LINC02063,LINC02162,LINC02121,SDHA,SLC9A3,TERT,SLC6A3,RN7SKP73,MTCO2P32,BRD9P2,PDCD6-AHRR,TRIP13,PDCD6,TPPP,EXOC3,SLC12A7
schaefer_10_ASD_discovery_cases-case9
FISH
Unknown
Unknown
Unknown
NA
zhang_15_ASD/ADHD/DD/ID_discovery_cases-familyIII_probandII-4
FISH
Paternal
Paternal
Multi-generational
Incomplete segregation (deletion not observed in two of proband's affected siblings)
LRRC14B,HRAT5,PP7080,MIR4456,BRD9P2,SPCS2P3,MIR4635,CTD-3080P12.3,MIR4457,MTCO2P32,MIR6075,MIR4277,MRPL36,LINC02116,CTD-2194D22.4,LSINCT5,IRX2,LINC01017,IRX1,LINC02063,LINC02114,CCDC127,SDHA,PDCD6,EXOC3-AS1,EXOC3,SLC9A3-AS1,TPPP,ZDHHC11B,ZDHHC11,BRD9,NKD2,SLC12A7,SLC6A19,SLC6A18,TERT,CLPTM1L,LINC01511,LPCAT1,NDUFS6,IRX4,LINC01377,LINC01019,LINC02162,PLEKHG4B,AHRR,SLC9A3,CEP72,TRIP13,SLC6A3,SDHAP3,C5orf38
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
Unknown
No Animal Model Data Available