10q24.33-q26.3CNV Type: Duplication
Largest CNV size: 30000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A possibly de novo duplication of this chromosomal region was identified in a male patient diagnosed with PDD-NOS and intellectual disability (Al-Sarraj et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.
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
al-sarraj_14_ASD/ID_discovery_cases
26-year-old Qatari man who is the oldest child in a sibship of six (three brothers, two sisters) with third-cousin parents and a family history negative for similar conditions or recurrent abortions
1
Diagnosis of ASD (PDD-NOS) based on evaluation using CARS, ADI-R, and ADOS; diagnosis of severe intellectual disability based on evaluation using Stanford Binet IV, ABS, and VABS.
26 yrs.
Male
30000000
0
1
1
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
al-sarraj_14_ASD/ID_discovery_cases-case1
26 yrs.
M
ASD and ID
Diagnosis of pervasive developmental disorder-not otherwise specified (PDD-NOS); ADOS evaluation showed diagnosis of ASD; CARS evaluation score of 30/60 (low level of mild ASD); ADI-R scores within cut-off range of ASD in areas of qualitative abnormalities in reciprocal social interaction and communication, did not meet cut-off score for restricted, repetitive, and stereotyped behavior. Birth/neonatal history: born full-term with notable cleft palate repaired at age of 2 years; neonatal jaundice due to ABO blood group incompatibility successfully treated with phototherapy; hypotonia noted early on. Developmental milestones: walking with a walker at age of 30 months, independent walking at age of 42 months (albeit with awkward and unstable gait; uttered first words at age of 7 years, never acquired phrase speech despite receiving speech therapy. Language and communication evaluation: poor verbal and non-verbal communication skills; able to understand a great deals of instructions. Motor and musculoskeletal evaluation: arachnodactyly and dolichostenomelia (hands reaching to knees on standing), camptodactyly (contractures of the proximal interphalangeal joints of the 2nd to the 5th finger) more pronounced on the left hand; prominent scapulae; kyphosis; positional scoliosis; valgus deformity of the feet (intoeing), long hallux, prominent heels. Behavioral/psychiatric evaluation: poor social skills; inconsistent eye contact; preoccupation with electronic gadgets, batteries, and wires; repetitively ensures softness of undergarments by feeling them. Epilepsy/seizures: none reported. Brain imaging: no significant findings on brain MRI. Vision and hearing evaluation: reportedly normal hearing; hypermetropia that required correction by glasses. Additional medical history: no reported gastrointestinal problems, cardiac problems, frequent infections, or asthma. Dysmorphic features: flat face, facial asymmetry, flat nasal bridge, flat nose, hypertelorism, microphthalmia, strabismus, epicanthal folds, slight ptosis of eyelids, tented upper lip, profoundly prominent upper and lower lips, prominent long mandible with obtuse mandibular angle, small prominent posteriorly rotated ears with poorly folded helices without a lobule, webbing of the neck (pterygium coli). Growth parameters: short stature; height of 155 cm (<3rd %ile), weight of 40 kg (<3rd %ile), head circumference of 52.5 cm (-2 SD). Family history: oldest child in a sibship of six (three brothers, two sisters) with third-cousin parents; family history is negative for similar conditions or recurrent abortions; parents reported to have normal chromosomes (paternal DNA N/A for testing).
Severe intellectual disability [based on Stanford Binet IV test sores and Adaptive Behavior Scales (ABS) and Vineland Adaptive Behavior Scales (VABS) evaluation]
103210243
133787422
30577180
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
al-sarraj_14_ASD/ID_discovery_cases-case1
qRT-PCR, solid phase hybridization, qPCR
Unknown (possibly de novo)
Simplex
Unknown (possibly segregated)
ST13P13,RPEL1,RNU11-3P,ATP5MD,MIR1307,CALHM1,CALHM3,SH3PXD2A-AS1,RN7SL524P,MIR936,SFR1,MIR609,MIR4482,CFAP58-DT,SORCS3-AS1,RNU6-463P,PPIAP38,YWHAZP5,RPL23AP59,RNA5SP325,RNA5SP326,PTGES3P5,MAPKAPK5P1,RN7SKP278,RNU5B-6P,RNU6-839P,PHB2P1,BTF3P15,XIAPP1,RPL21P91,RNU4-5P,SNRPGP12,HMGB3P5,RPL7P35,RN7SKP288,RNA5SP327,MIR4680,RPL13AP6,MIR548E,ADRA2A,BTBD7P2,RPS6P15,MIR6715B,MIR6715A,MIR4295,RPS15AP30,RNU7-165P,PPIAP39,MIR4483,ADRB1,RNU6-709P,UBE2V1P5,MIR2110,AURKAP2,RN7SL384P,PPIAP19,TAF9BP2,RNU6-1121P,NTAN1P1,SNRPGP6,HMGB3P8,RNU6-1090P,PNLIPP1,C10orf82,RPL5P27,MIR3663,RPL12P26,KCNK18,EMX2,SLC25A18P1,PRLHR,TOMM22P5,RPL17P36,LDHAP5,SNORA19,RN7SL749P,MIR4681,RAD1P1,RPS8P4,TXNP1,RN7SL846P,MIR4682,NACAP2,RPL21P16,LINC01561,RPL19P16,LINC01153,RN7SKP167,RPS15AP5,RNU6-728P,MIR3941,ARMS2,HMX3,HMX2,RPS26P39,YBX2P1,NKX1-2,RPS10P18,FAM53B-AS1,NPM1P31,MIR4296,MRPS21P6,RPS27P18,TEX36-AS1,ALDOAP2,MMP21,MIR4484,RNU2-42P,GNG10P1,FANK1-AS1,RNA5SP328,SAR1AP2,FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,FRG2B,RARRES2P2,AGGF1P2,CLUHP5,DUX4L28,DUX4L25,DUX4L24,DUX4L23,DUX4L22,DUX4L21,DUX4L20,DUX4L29,DUX4L10,DUX4L11,DUX4L12,DUX4L13,DUX4L14,DUX4L15,RPL23AP60,PCGF6,TAF5,CALHM2,NEURL1-AS1,STN1,SLK,GSTO1,GSTO2,CFAP58,XPNPEP1,SMNDC1,DUSP5,SMC3,PDCD4-AS1,BBIP1,SHOC2,TECTB,ACSL5,ZDHHC6,HABP2,CASP7,DCLRE1A,TDRD1,VWA2,AFAP1L2,FAM160B1,RPL15P13,CCDC172,PNLIPRP3,PNLIP,PNLIPRP1,PNLIPRP2,ENO4,VAX1,MIR3663HG,SLC18A2,EMX2OS,RAB11FIP2,FAM204A,NANOS1,EIF3A,FAM45A,PRDX3,GRK5-IT1,TIAL1,MCMBP,WDR11,ATE1-AS1,NSMCE4A,HTRA1,DMBT1,C10orf120,CUZD1,FAM24B,FAM24A,PSTK,IKZF5,ACADSB,BUB3,GPR26,CHST15,OAT,ABRAXAS2,ZRANB1,TEX36,EDRF1,EDRF1-AS1,UROS,DHX32,LINC00601,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,INA,PDCD11,NEURL1,COL17A1,CFAP43,ITPRIP,ADD3-AS1,MXI1,RBM20,PDCD4,GUCY2GP,VTI1A,TCF7L2,NRAP,PLEKHS1,NHLRC2,CCDC186,ABLIM1,TRUB1,GFRA1,HSPA12A,SHTN1,PDZD8,CASC2,LINC00867,CACUL1,SFXN4,GRK5,BAG3,INPP5F,PHACTR2P1,SEC23IP,WDR11-AS1,FGFR2,ATE1,TACC2,BTBD16,PLEKHA1,DMBT1P1,C10orf88,LHPP,FAM53B,CTBP2,FANK1,ADAM12,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,SH3PXD2A,SORCS3,SORCS1,LINC01435,ADD3,GPAM,ATRNL1,RGS10,PLPP4,CPXM2,EEF1AKMT2,PTPRE,C10orf143,JAKMIP3,KNDC1,BCCIP
Controls
No Control Data Available
No Animal Model Data Available