5p13.3-q11.2CNV Type: Duplication
Largest CNV size: 22000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A 22 Mb duplication of chromosome 5p13.3-q11.2 resulting from a small supernumerary marker chromosome derived from chromosome 5 was observed in an adult male diagnosed with ASD and ADHD and presenting with developmental delay and intellectual disability (Armstrong et al., 2018).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
armstrong_18_ASD/ADHD/DD/ID_discovery_cases
Adult male with a 22 Mb duplication of chromosome 5p13.3-q11.2 resulting from a small supernumerary marker chromosome derived from chromosome 5
1
Case was diagnosed with ASD and ADHD (diagnostic tools not reported) and also presented with a medical history of developmental delay/intellectual disability, dysmorphic features, and multiple congenital anomalies
18 years
Male
22000000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
armstrong_18_ASD/ADHD/DD/ID_discovery_cases
United States
CMA
Custom-designed combination copy-number and SNP array (GeneDx)
Genomic Oligoarray and SNP Evaluation Tool V3.0
None
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
armstrong_18_ASD/ADHD/DD/ID_discovery_cases-case1
18 yrs.
M
ASD, ADHD, and developmental delay
Birth/neonatal history: born at 30 weeks gestation to a 26-year-old G1P0 mother following a pregnancy complicated by polyhydramnios and preterm labor occuring at 24 weeks gestation; birth weight 1.786 kg (90th %ile) and birth length 43 cm (90th %ile); noted to have dysmorphic features and right talipes equinovarus after delivery; head imaging at infancy showed polymicrogyria; case spent 5 weeks in hospital due to respiratory problems; low muscle tone as an infant. Developmental milestones: globally delayed developmental milestones (sat by himself at 10 months, crawled at 12 months, walked at 18 months). Motor and musculoskeletal evaluation: kyphoscoliosis (at Risser stage 4, required spinal fusion at age of 18 years), pectus excavatum, positive bilateral wrist signs, arachnodactyly/tapered fingers. Behavioral/psychiatric evaluation: case diagnosed with ASD and ADHD (diagnostic tools not reported). Cardiac evaluation: heart murmur and mild aortic root dilation. Additional medical history: medical history was significant for dental caries, strabismus, myopia, kyphoscoliosis, and chronic diarrhea during childhood. Dysmorphic features: bilateral preauricular pits, dolichocephaly, long and thin face, hypotelorism with inner canthal distance of 2.9 cm (< 3rd %ile), mild malar hypoplasia, esotropia, dental crowding, three vertical skin striae on back; concerns for a connective tissue disorder (case did not meet clinical crtieria for a diagnosis, however). Growth parameters: height of 185 cm (87th %ile), weight of 81 kg (80th %ile); macrocephaly [head circumference of 61.5 cm (> 97th %ile)]. Family history: four-generation family history was significant for a maternal great-grandfather dying from complication of thoracic or abdominal aortic aneurysm; case's parents are alive without any significant health history (parental consanguinity was denied), and the remainder of the case's family history is unremarkable for birth defects, intellectual disability, or recurrent miscarriages. Karyotype: mar(5)(p13.3-q11.2) [40-45% mosaicism]
Intellectual disability
31513709
54456358
22942650
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
armstrong_18_ASD/ADHD/DD/ID_discovery_cases-case1
Unknown
Simplex
RNU6-363P,RNU6-358P,RNU6-760P,RPL5P14,TPT1P5,MIR4279,RNU6-1079P,RNU6-378P,MIR579,LINC02061,RNU6-923P,RXFP3,RPL21P54,BRIX1,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,LINC02104,CCDC11P1,INTS6P1,GCSHP1,KRT18P56,RNU1-150P,SNORD72,RNU7-161P,OXCT1-AS1,RPSAP38,MTHFD2P6,PPIAP77,PRELID3BP4,PRELID3BP5,PRELID3BP6,PRELID3BP7,EEF1A1P19,AMD1P3,RPL29P12,RNU6-381P,RN7SL383P,LINC02106,RNU6-480P,RNU6-1296P,ISL1,HMGB1P47,RNA5SP182,KATNBL1P4,RPS17P11,MFSD4BP1,B3GNTL1P1,FST,ASS1P9,RNU6-272P,MIR581,RN7SL801P,RPL37P25,HSPB3,C5orf22,GOLPH3,SUB1,LINC02120,LINC02160,TARS,AMACR,C1QTNF3,RAD1,DNAJC21,AGXT2,IL7R,UGT3A1,LMBRD2,NADK2,RANBP3L,SLC1A3,GDNF,LINC02117,EGFLAM-AS4,LINC00604,PTGER4,RPL37,CARD6,C7,C5orf51,FBXO4,CCDC152,ANXA2R,HMGCS1,TMEM267,C5orf34,PAIP1,NNT-AS1,FGF10,FGF10-AS1,LINC02224,MRPS30-DT,MRPS30,EMB,PELO,MOCS2,LINC02105,PDZD2,MTMR12,ZFR,NPR3,SLC45A2,C1QTNF3-AMACR,RAI14,TTC23L,PRLR,CAPSL,UGT3A2,SKP2,NIPBL,CPLANE1,NUP155,GDNF-AS1,LINC02107,EGFLAM,LIFR,LIFR-AS1,OSMR,RICTOR,FYB1,C9,DAB2,LINC00603,TTC33,PRKAA1,MROH2B,C6,PLCXD3,OXCT1,GHR,SERBP1P6,SELENOP,ZNF131,NIM1K,CCL28,NNT,HCN1,PARP8,LINC02118,ITGA1,ITGA2,NDUFS4,ARL15,LINC01033,DROSHA,SPEF2,WDR70,OSMR-AS1,ADAMTS12
Controls
No Control Data Available
No Animal Model Data Available