19p12-q13.11CNV Type: Duplication
Largest CNV size: 18400000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A 19p12-q13.33 mosaic duplication was identified in a patient with Asperger syndrome.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?
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
faucz_11_ASD_discovery_cases
First child of healthy parents (age of mother and father, 39 yrs. & 54 yrs., respectively) with no family history of malformation or mental retardation. Case displays small supernumerary marker chromosome (sSMC) identified by conventional cytogenetic analysis.
1
Diagnosis of Asperger syndrome at 4 yrs. based on meeting appropriate criteria following DSM-IV behavioral criteria, neurological, and psychological evaluation.
4 yrs. 10 mos.
Male
18400000
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
faucz_11_ASD_discovery_cases-case1
4 yrs. 10 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome at 4 yrs. based on meeting appropriate criteria following DSM-IV behavioral criteria, neurological, and psychological evaluation. Birth/neonatal history: last month of pregnancy complicated by oligohydramnois; born by C-section at 39.5 weeks gestation; birth weight and length in 3rd-10th %ile; Apgar scores 8 and 9; neonatal perioud complicated by lack of breast suction and mild hypotonia; moderate-to-severe gastroesophageal reflux disease (GERD) diagnosed in 1st month and treated with medication until 8 months. Developmental milestones: walking at 16 months; spoke a few words at 24 months; toilet trained at 3-4 years. Motor and musculoskeletal evaluation: neurological evaluation revealed diffuse mild hypotonia with normal deep tendon refluxes. Behavioral/psychiatric evalation: short attention span, marked solitariness, poor ability to relate to others, stereotypic motor mannerisms, obsessive-compulsive behavior, loves music, no aggressive behavior. Brain MRI: normal. Vision: normal. Hearing: unilateral mild sensorineural hearing loss. Dysmorphic features: long face, high nasal bridge, thin upper lip, inner and outer canthal distances both at 50th %ile. Growth parameters: height, 110 cm (50th-75th %ile); weight, 23.5 kg (90th %ile); head circumference, 50 cm (50th %ile). Family history: first child of healthy 39-yr-old mother and 54-yr-old father; mother with no history of medication or drug use; no family history of malformation or mental retardation. Karyotype: small supernumerary marker chromosome (sSMC) identified by conventional cytogenetic analysis; aCGH & FISH showed mosiac partial trisomy of chromosome 19 (19p12-q13.11) present in 43% of metaphase cells.
19833148
33030738
13197591
GRCh38
Mosaic 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
faucz_11_ASD_discovery_cases-case1
FISH
Unknown
Simplex
Unknown
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,HAVCR1P1,SLC25A1P5,MAN1A2P1,RNA5SP470,LINC01532,RN7SL340P,PPIAP58,RPL9P32,TAF9P3,LINC01834,RNA5SP471,RNU6-967P,LINC01782,RNA5SP472,PDCD5,SNORA68B,RPS12P31,RN7SL789P,RGS9BP,RN7SKP22,RPL31P60,FAAP24,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,ERVK-28,UQCRFS1,VSTM2B,POP4,PLEKHF1,C19orf12,CCNE1,LINC01533,DPY19L3,NUDT19,SLC7A9,ZNF486,ZNF714,ZNF738,LINC00664,ZNF100,ZNF98,ZNF91,ZNF675,LINC00662,LINC00906,URI1,LINC01791,TSHZ3,LINC01837,ZNF507,ANKRD27,TDRD12,CEP89,RHPN2,ZNF93,ZNF254,ZNF536
Controls
No Control Data Available
No Animal Model Data Available