1q23.3-q24.2CNV Type: Deletion
Largest CNV size: 4970000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A ~5 Mb de novo deletion in this region was detected in an autistic male.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
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
della_monica_07_ASD_discovery_cases
5-year-old autistic male born to unrelated parents
1
Diagnosis of autism based on meeting ICD-10 diagnostic criteria
5 yrs.
Male
4970000
1
0
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
7827210
2
0
2
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
della_monica_07_ASD_discovery_cases
Caucasian
FISH
aCGH (Agilent 44B)
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
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
della_monica_07_ASD_discovery_cases
5 yrs.
M
Autism
Diagnosis of autism based on meeting ICD-10 diagnostic criteria. Birth/neonatal history: born full-term after uneventful pregnancy, APGAR scores of 8 and 9; neonatal jaundice treated with phototherapy. Developmental milestones: at 6 months of age, clinical evaluation showed developmental delay, axial hypotonia, dystonia, and symmetrical movements of the limbs associated with inconsistent response to environmental stimuli. Neurological evaluation at 5 yrs.: diffuse hypotonia, absence of speech, poor eye contact, stereotyped movements, severe isolation with poor social interaction, stress-induced anxiety attacks. Brain MRI (13 months): mild enlargement of ventricular system at the frontal horns. Brain CT (7 months): mildly enlarged ventricles. EEG: mildly asymmetrical activity with slower, wider rhythms on the right hemisphere. Astigmatism. Abdominal sonography showed ectopic hypoplastic right kidney and mildly malrotated left kidney without signs of obstruction. Delayed bone age (3 years) observed by X-ray review. Normal cardiology exam. Dysmorphic features: high forehead with high hairline, hypoplastic alae nasi, high-arched palate, everted lower lip, mild retrognathia, posteriorly rotated ears with hypoplastic superior crus of antihelix and antitragus and indented lobule, mild pectus excavatum, clinodactyly of 5th fingers. Growth parameters: height, 103.9 cm (10th-25th %ile); weight, 15 kg (3rd-10th %ile); OFC, 51 cm (25th-50th %ile). Family history: aggregation of mental retardation, psychosis, OCD, and affective disorders on the paternal side; parents were unrelated. Other genetic characteristics: de novo, apparently balanced translocation of chromosomes 1q and 5q [46, XY, t(1;5)(q23;q22)].
160640000
165930000
4970000
Unknown
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002416
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
162040050
167480663
5440614
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005335
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
160789732
168617494
7827763
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
della_monica_07_ASD_discovery_cases
aCGH (Agilent 44B)
De novo
Possibly simplex (medical history of sister NA)
Possibly segregated
SH2D1B,UHMK1,UAP1,DDR2,HSD17B7,C1orf110,RGS4,RGS5,NUF2,PBX1,LMX1A,RXRG,LRRC52,MGST3,ALDH9A1,TMCO1,UCK2,FAM78B,POGK,TADA1,ILDR2,MAEL,GPA33,DUSP27,POU2F1,CD247,CREG1,RCSD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002416
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4654,RNA5SP61,MIR556,SPATA46,SLAMF6P1,UQCRBP2,RN7SL861P,RNA5SP62,RNA5SP63,NMNAT1P2,RNU5F-6P,HMGB3P6,RNU6-171P,RNU6-755P,MIR3658,RNA5SP64,MIR921,RPL4P2,CNN2P10,DUTP6,RNA5SP65,C1orf226,UAP1,CCDC190,RGS4,LRRC52,MGST3,UCK2,FMO7P,LINC01675,FMO8P,FMO9P,FMO10P,FMO11P,TADA1,ILDR2,LINC01363,NOS1AP,SH2D1B,DDR2,HSD17B7,RGS5,NUF2,LMX1A,RXRG,TMCO1,FAM78B,POGK,MAEL,GPA33,DUSP27,POU2F1,CD247,UHMK1,PBX1,ALDH9A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005335
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAP37,ITLN1,ITLN2,USF1,KLHDC9,DEDD,USP21,B4GALT3,APOA2,TOMM40L,MIR5187,MPZ,RRM2P2,RNU6-481P,HSPA6,RPS23P10,HSPA7,RPS23P9,RPL31P11,RN7SL466P,DUSP12,MIR4654,RNA5SP61,MIR556,SPATA46,SLAMF6P1,UQCRBP2,RN7SL861P,RNA5SP62,RNA5SP63,NMNAT1P2,RNU5F-6P,HMGB3P6,RNU6-171P,RNU6-755P,MIR3658,RNA5SP64,MIR921,RPL4P2,CNN2P10,DUTP6,RNA5SP65,AKR1D1P1,MIR1255B2,GCSHP5,RPL34P1,RNU6-1310P,MIR557,QRSL1P1,XCL1,CD244,F11R,TSTD1,ARHGAP30,PFDN2,NIT1,UFC1,PPOX,ADAMTS4,NDUFS2,NR1I3,PCP4L1,CFAP126,FCGR2A,FCGR3A,FCGR2C,FCGR3B,FCGR2B,FCRLA,FCRLB,C1orf226,UAP1,CCDC190,RGS4,LRRC52,MGST3,UCK2,FMO7P,LINC01675,FMO8P,FMO9P,FMO10P,FMO11P,TADA1,ILDR2,LINC01363,CREG1,MPC2,GPR161,TIPRL,SFT2D2,ANKRD36BP1,XCL2,LY9,NECTIN4,FCER1G,SDHC,ATF6,OLFML2B,NOS1AP,SH2D1B,DDR2,HSD17B7,RGS5,NUF2,LMX1A,RXRG,TMCO1,FAM78B,POGK,MAEL,GPA33,DUSP27,POU2F1,CD247,RCSD1,ADCY10,DCAF6,TBX19,UHMK1,PBX1,ALDH9A1,MPZL1
Controls
No Control Data Available
No Animal Model Data Available