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19p13.12-p12CNV Type: Duplication


Largest CNV size: 8350000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo mosaic duplication of this region was identified in a 33-year-old male patient diagnosed with social communication disorder (Demily et al., 2014).

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p.
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
 demily_14_SCD_discovery_cases
 First child of healthy, non-consanguineous Portuguese parents with unremarkable family history presenting with mosaic supernumerary ring chromosome 19p
 1
 Diagnosis of social communication disorder (SCD) according to DSM-5 criteria.
 33 yrs.
 Male
 8350000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 demily_14_SCD_discovery_cases
  Portuguese
 Karyotyping, aCGH
  Agilent SurePrint G3
 
 
 FISH

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
  demily_14_SCD_discovery_cases-case1
 33 yrs.
 M
 Social communication disorder
 Diagnosis of social communication disorder (SCD) according to DSM-5 criteria. Birth/neonatal history: normal pregnancy and delivery; birth weight of 2550 g (-2 SD), length og 46 cm (-3 SD) and head circumference of 32 cm (-3 SD); Apgar scores of 10 and 10; short stature of prenatal onset noted; showed gastro-esophageal reflux and recurrent otitis media during infancy; underwent surgical interventions for inguinal hernias, adenoidectomy, and umbilical cyst ablation. Developmental milestones: mild motor delay (started walking at age fo 2 years); moderate learning difficulties. Language and communication evaluation: difficulties in acquiring/using language, limited effective communication, limited social relationships. Motor and musculoskeletal evaluation: mild scoliosis with no obvious sign of bone dysplasia. Brain imaging: normal brain MRI. Additional medical history: isolated mild hepatomegaly on abdominal ultrasounds. Dysmorphic features: long face, high forehead, thick eyebrows, down-slanting palpebral fissures, prominent nose with high nasal bridge, malar hypoplasia. Growth parameters: height of 152 cm (-3.5 SD) and weight of 43.9 kg; normal body mass index (18.9 kg/m2), normal head circumference (55 cm). Karyotyping: small mosaic supernumerary marker chromosome (ring chromosome 19p), level of mosaicism evaluated at 55%. Family history: first child of healthy non-consanguineous parents of Portuguese descent; family history otherwise unremarkable.
 Normal intellectual functioning (total IQ of 90); decreased psychomotor speed impacting on attentional tasks and mildly impaired verbal memory; good executive functioning and visual memory abilities
 15876701
 24157939
  8281239
 GRCh38
 Duplication (mosaic)
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 demily_14_SCD_discovery_cases-case1
 FISH
 
 De novo
 Simplex
 Segregated
 OR10H4,SNX33P1,OR1AB1P,LINC01855,KLF2,RN7SL146P,RN7SL835P,RN7SL823P,OCEL1,GTPBP3,CCDC194,BST2,TMEM221,NXNL1,INSL3,RPL18A,SNORA68,RNA5SP468,RPS18P13,IFI30,MPV17L2,JUND,MIR3188,RPL39P38,RN7SL513P,MIR3189,LRRC25,ISYNA1,FKBP8,UBA52,REX1BD,RN7SL155P,COMP,HOMER3-AS1,RN7SL70P,RFXANK,RNU6-1028P,HAPLN4,MIR640,NDUFA13,PHF5CP,GMIP,BNIP3P10,BNIP3P13,BNIP3P15,BNIP3P16,BNIP3P17,BNIP3P18,BNIP3P19,BNIP3P20,MIR1270,BNIP3P22,BNIP3P23,VN1R78P,BNIP3P24,KRT18P40,VN1R80P,RNA5SP469,VN1R81P,RPL7AP10,VN1R82P,RPL36AP51,VN1R83P,BNIP3P25,BNIP3P26,MTDHP3,MTDHP4,VN1R84P,BRI3BPP1,BNIP3P27,MTDHP2,BNIP3P28,BNIP3P29,ZNF92P2,PCGF7P,MTDHP5,VN1R85P,BNIP3P30,BNIP3P31,RPL34P34,BNIP3P32,BNIP3P33,ZNF209P,LINC01233,RNU6-1179P,GOLGA2P9,RN7SL860P,LINC01785,ZNF849P,RPL34P33,VN1R87P,BNIP3P34,BNIP3P35,VN1R88P,BNIP3P36,BNIP3P37,SNX6P1,BNIP3P38,VN1R90P,VN1R91P,BNIP3P8,CDC42EP3P1,VN1R92P,RPS27P29,VN1R93P,BNIP3P39,RPSAP58,RNA5-8SP4,BNIP3P40,CYP4F2,CYP4F11,LINC00661,LINC00905,TPM4,HSH2D,CIB3,FAM32A,AP1M1,CALR3,CHERP,SLC35E1,MED26,TMEM38A,SIN3B,F2RL3,HAUS8,USE1,NR2F6,USHBP1,BABAM1,ANKLE1,DDA1,ANO8,PLVAP,BISPR,SLC27A1,PGLS,FAM129C,UNC13A,MAP1S,FCHO1,B3GNT3,SLC5A5,CCDC124,ARRDC2,MAST3,PIK3R2,RAB3A,IQCN,LSM4,GDF15,SSBP4,KXD1,CRLF1,KLHL26,UPF1,COPE,DDX49,HOMER3,ARMC6,SLC25A42,BORCS8-MEF2B,MEF2B,BORCS8,NR2C2AP,NCAN,SUGP1,MAU2,TSSK6,CILP2,PBX4,LPAR2,ZNF101,ZNF14,LINC00663,BNIP3P9,ZNF253,ZNF682,ZNF90,ZNF826P,ZNF737,ZNF626,VN1R79P,ZNF66,ZNF85,ZNF430,ZNF431,ZNF708,ZNF493,ZNF429,ZNF43,ZNF208,ZNF257,ZNF676,ZNF729,ZNF492,ZNF99,ZNF723,ZNF728,LINC01859,LINC01858,ZNF730,ZNF724,IPO5P1,LINC01224,ZNF725P,ZNF681,ZNF726,CYP4F9P,RAB8A,EPS15L1,C19orf44,SMIM7,CPAMD8,MYO9B,ABHD8,MRPL34,MVB12A,COLGALT1,KCNN1,IL12RB1,PDE4C,PGPEP1,ELL,TMEM59L,CRTC1,SUGP2,TMEM161A,TM6SF2,GATAD2A,YJEFN3,ATP13A1,ZNF506,ZNF486,ZNF714,ZNF738,LINC00664,ZNF100,ZNF98,ZNF91,ZNF675,JAK3,GDF1,CERS1,ZNF93,ZNF254,NWD1
 

Controls

No Control Data Available
No Animal Model Data Available
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