7p21.1-p15.3CNV Type: Deletion
Largest CNV size: 2912338 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton deletion within this region was found in a case 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
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
Microdeletions of 5.5Mb (4q13.2-q13.3) and 4.1Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability,...
Deletion
Minor Reports
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
2912338
1
0
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
4724621
1
0
1
shimada_13_DD/ASD_discovery_cases
First child of healthy parents presenting with typical Saethre-Chotzen syndrome (SCS) phenotype and additional severe neurological features; case present in DECIPHER database (DECIPHER #TWM264324).
1
Severe developmental delay, autistic behaviors (no formal diagnosis of ASD), and Seathre-Chotzen syndrome
5 yrs.
Male
5500000
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
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
shimada_13_DD/ASD_discovery_cases
Japanese
aCGH
Agilent SurePrint G3 + SNP180K
FISH, microsatellite analysis
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-ISCA00004527
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18505390
21417733
2912344
GRCh38
Deletion
Yes
miclea_22_DD/ID_discovery_cases-case153
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
18775307
23499927
4724621
GRCh38
Deletion
No
shimada_13_DD/ASD_discovery_cases-case1
5 yrs.
M
Developmental delay and autistic behaviors
Case present in DECIPHER database (DECIPHER #TWM264324). Birth/neonatal history: born at 41 weeks gestation; birth weight of 3650 g (+1.0 SD), length of 51 cm (+0.5 SD), OFC of 34 cm (mean); surgery performed in infancy due to craniosynostosis. Developmental milestones: delay in psychomotor development apparent during early infancy; head control at 12 months, rolling over at 14 months, standing with support at 24 months, crawling at 26 months, standing alone at 30 months. Language and communication evaluation: unable to speak any meaningful words. Motor and musculoskeletal evaluation: unable to walk alone. Behavioral/psychiatric evaluation: autistic behaviors, interpersonal problems (no formal diagnosis of ASD). Epilepsy/seizures: no reported clinical epileptic seizures. EEG: spike discharges. Dysmorphic features: brachycephaly, acrocephaly, facial asymmetry, high and narrow forehead, sparse and arched eyebrows, hypertelorism, bilateral blepharophimosis and ptosis, epicanthus inversus, depressed and deviated nasal bridge, anteverted nares, maxillary hypoplasia, strabismus, low set and posteriorly angulated ear with uplifted lobe and prominent crus helixes, cutaneous syndactyly between 2nd and 3rd fingers. Growth parameters: weight of 15.3 kg (-0.1 SD), height of 102.5 cm (+0.9 SD), and OFC of 50 cm (-0.1 SD) at 5 years of age. Family history: first child of healthy parents. Karyotype: normal male karyotype of 46, XY.
Severe developmental delay
17286929
22829719
5542791
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004527
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP266,NPM1P13,FERD3L,TWISTNB,MIR3146,RPL21P75,EEF1A1P27,SP8,RPL23P8,RPS26P30,RN7SL542P,ASS1P11,RNU1-15P,TWIST1,TMEM196,MACC1-AS1,ITGB8,MACC1,ABCB5,HDAC9,LINC01162
miclea_22_DD/ID_discovery_cases-case153
Unknown
RNU1-15P,CDCA7L,TOMM7,KLHL7,FAM126A,MALSU1,IL6,ITGB8,SP8,TMEM196,RPL23P8,EEF1A1P6,FERD3L,RPS2P32,POLR1F,STEAP1B,ABCB5,ASS1P11,MACC1,RPL12P10,IL6-AS1,SNORD93,RPL21P75,EEF1A1P27,RPS26P30,AK3P3,MIR1183,MIR3146,KLHL7-DT,RNA5SP227,MACC1-AS1,ITGB8-AS1,LINC01162,HDAC9-AS1,RNU7-143P,RN7SKP266,TWIST1,SP4,RN7SL542P,SNORD65C,SNHG26,MTCYBP42,DNAH11,RAPGEF5,HDAC9,GPNMB,NPM1P13,NUP42,IGF2BP3
shimada_13_DD/ASD_discovery_cases-case1
FISH, microsatellite analysis
De novo
Simplex
Likely segregated
RNMTL1P2,PRPS1L1,MIR1302-6,RN7SKP266,NPM1P13,FERD3L,TWISTNB,MIR3146,RPL21P75,EEF1A1P27,SP8,RPL23P8,RPS26P30,RN7SL542P,ASS1P11,RNU1-15P,MIR1183,IL6,MTCYBP42,TOMM7,TWIST1,TMEM196,MACC1-AS1,ITGB8,CDCA7L,RNA5SP227,EEF1A1P6,AHR,KCCAT333,MACC1,ABCB5,SP4,DNAH11,RAPGEF5,STEAP1B,SNX13,HDAC9,LINC01162
Controls
No Control Data Available
No Animal Model Data Available