5p13.2-p13.1CNV Type: Duplication
Largest CNV size: 3700000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A 3.7 Mb de novo duplication in this region was identified in a 23-year-old patient with developmental delay and autistic features, but no formal diagnosis of ASD.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further chara...
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
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
2367238
0
1
1
oexle_11_DD_discovery_cases
Single child of non-consanguineous parents
1
Developmental delay, autistic behavior (no formal diagnosis of ASD), obesity, lymphedema, hypertension, macrocephaly, and facial features characteristic of 5p duplication syndrome.
23 yrs.
Male
3700000
0
1
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
oexle_11_DD_discovery_cases
German
Solid phase hybridization
Illumina Infinium Human610-Quad BeadChip
Illumina GenomeStudio
FISH
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-ISCA00005236
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37016043
39383281
2367239
GRCh38
Duplication
Yes
oexle_11_DD_discovery_cases-case1
23 yrs.
M
Developmental delay + autistic features
Birth/neonatal history: weak fetal movements; length, weight, and head size in upper normal range; muscular hypotonia, weak cry, dysplastic ears, and talpes varus noticed; macrocephaly observed at 4 months; diastasis recti diagnosed at 1.5 years. Developmental milestones: delayed mental and motor development (walking at 2.5 years, 1st words at 4 yrs.). Autistic behavior reported during adolescence (tendency to echolalia and stereotypic responses); no formal diagnosis of ASD. Other behavioral/psychiatric characteristics: age-inadequate attention deficit and perception skills at 5.6 years. Persistent muscular hypotonia. Other medical concerns: lymphedema, obesity (BMI of 40 at 22 years), hypertension/high blood pressure. Brain imaging: mildly enlarged ventricular spaces detected by cranial ultrasound at 4 months. Dysmorphic features: macrocephaly, dolichocephaly, prominent forehead, low-set dysplastic ears, short palpebral fissures, epicanthal folds, short nose, broad nasal root, anteverted nostrils, long and shallow philtrum, high-arched palate, thick and everted lower lip, micrognathia, short neck, low posterior hairline, tapered fingers, talipes varus, cryptorchidism (one testes in inguinal canal). Growth parameters: height, 25-50th %ile; weight, >97th %ile (case suffers from obesity); OFC, 62 cm (2 cm >97th %ile). Family history: only child of non-consanguineous parents.
Developmental delay. Case finished school but required special support to achieve professional training; insufficient self-care, dependent on parental help for functioning in daily life.
35588987
39328404
3739418
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005236
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPS4XP6,C8orf59P2,OFD1P17,RN7SL37P,RNU7-75P,KCTD9P5,RNU6-1190P,RNU6-484P,LINC02110,LINC02119,EGFLAM-AS3,EGFLAM-AS2,EGFLAM-AS1,MIR3650,AIG1P1,GOLGA5P1,GDNF,LINC02117,EGFLAM-AS4,NIPBL,CPLANE1,NUP155,GDNF-AS1,LINC02107,EGFLAM,LIFR,LIFR-AS1,OSMR,RICTOR,FYB1,C9,DAB2,WDR70,OSMR-AS1
oexle_11_DD_discovery_cases-case1
FISH
De novo
Simplex
Segregated
RNU7-130P,MIR580,RNU6-1305P,NADK2-AS1,RNA5SP181,NIPBL-DT,KRT18P31,RPS4XP6,C8orf59P2,OFD1P17,RN7SL37P,RNU7-75P,KCTD9P5,RNU6-1190P,RNU6-484P,LINC02110,LINC02119,EGFLAM-AS3,EGFLAM-AS2,EGFLAM-AS1,MIR3650,AIG1P1,GOLGA5P1,IL7R,UGT3A1,LMBRD2,NADK2,RANBP3L,SLC1A3,GDNF,LINC02117,EGFLAM-AS4,CAPSL,UGT3A2,SKP2,NIPBL,CPLANE1,NUP155,GDNF-AS1,LINC02107,EGFLAM,LIFR,LIFR-AS1,OSMR,RICTOR,FYB1,C9,SPEF2,WDR70,OSMR-AS1
Controls
No Control Data Available
No Animal Model Data Available