HELP     Sign In

19q12-q13.11CNV Type: Duplication


Largest CNV size: 2463866 bp

Statistics Box:
Number of Reports: 2



Summary Information

A de novo duplication spanning this region was identified in a patient from the Deciphering Developmental Disorder (DDD) study that presented with global developmental delay and dysmorphic features (Fitzgerald et al., 2014).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 caubit_16_ASD/ID_discovery_cases
 Seven patients from six unrelated families with 19q12-q13.11 deletions that included the TSHZ3 gene but not the 19q13.11 syndrome critical region
 7
 5/7 cases present with ASD
 N/A
 57.14% Male
 4020000
 2
 0
 2
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 2463866
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 caubit_16_ASD/ID_discovery_cases
  N/A
 N/A
  Discovery platform N/A
 
 
 Not reported
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 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
  caubit_16_ASD/ID_discovery_cases-case2
 N/A
 M
 ASD and intellectual disability
 Developmental milestones:. Lanaguge and communication evaluation: absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures that required antiepileptic drugs. Additional medical history: nephrolithiasis.
 Intellectual disability
 N/A
 N/A
  4020000
 GRCh37
 Deletion
 No
  caubit_16_ASD/ID_discovery_cases-case5
 N/A
 M
 Intellectual disability
 Developmental milestones: speech delay. Behavioral/psychiatric evaluation: hyperactivity, social behavioral disinhbition, graphic difficulties. Dysmorphic features: aplasia cutis in midline of scalp.
 Intellectual disability
 N/A
 N/A
  2870000
 GRCh37
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263549
 N/A
 F
 Developmental delay
 Broad lateral eyebrow; Deeply set eye; Upslanted palpebral fissure; Epicanthus; Wide nose; Downturned corners of mouth; Thick lower lip vermilion; Abnormality of tear glands or tear production; Drooling; High palate; Hyperpigmentation of the skin; Inverted nipples; Increased body weight; Short tapering fingers; Impaired pain sensation; Global developmental delay
 
 29888973
 32352840
  2463868
 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
 caubit_16_ASD/ID_discovery_cases-case2
 None reported
 
 De novo
 
 Likely segregated
 CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
 
 caubit_16_ASD/ID_discovery_cases-case5
 None reported
 
 De novo
 
 Likely segregated
 CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263549
 
 
 De novo
 Simplex
 Segregated
 PPIAP58,RPL9P32,TAF9P3,LINC01834,RNA5SP471,RNU6-967P,LINC01782,RNA5SP472,LINC01533,URI1,LINC01791,TSHZ3,LINC01837,ZNF507,ZNF536
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.