19p13.12-p12CNV Type: Duplication
Largest CNV size: 8350000 bp
Statistics Box:
Number of Reports: 1
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
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
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