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Yq12CNV Type: Deletion


Largest CNV size: 328231 bp

Statistics Box:
Number of Reports: 4



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 318918
 1
 0
 1
 isrie_12_ID_discovery_cases
 Two unrelated patients referred for genetic screening due to short stature and additional phenotypes
 2
 Borderline intellectual disability (ID), short staure, and minor dysmorphisms in both cases. Male patient has additional diagnosis of ADHD.
 Range, 15-19 yrs.
 50% Male
 223000
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 305041
 1
 2
 3
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 328231
 2
 0
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 318918
 NA
 NA
 NA
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 isrie_12_ID_discovery_cases
  European
 aCGH
  CytoSure ISCA v2, Agilent 180K
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  girirajan_12_ASD/DD/ID_discovery_cases-case5609
 7 yrs.
 M
 PDD-NOS
 Speech and motor delays. Behavioral problems: PDD-NOS, ADHD, outbursts, OCD-like. Mild hypotonia, apraxia, heat intolerance. Dysmorphic features: turricocephaly, midface hypoplasia, flat occiput, frontal bossing, boxy overfolded helices, low-set ears. Congenital anomalies: pectus excavatum. Other features: delayed closure of AF, suspected mitochondrial disorder. Growth parameters: weight 97th %ile, height 82nd %ile, OFC >97th %ile. Family history: healthy father; brother (not tested) has mitochondrial disease. Patient previously reported in Rosenfeld et al., 2010.
 IQ 66
 56872831
 57191745
  318915
 GRCh38
 Deletion
 Yes
  isrie_12_ID_discovery_cases-patient2
 19 yrs.
 M
 Intellectual disability and ADHD
 Patient referred to department of clinical genetics at age of 19 years for short stature. Birth/neonatal history: born at 37 weeks of gestation after uneventful pregnancy; birth weight 0 SD and length -1.7 SD; large fontanel with delayed closure. Developmental milestones: delayed motor development (walked at age of 2 years); normal speech development. Behavioral/psychiatric evaluation: diagnosis of ADHD. Epilepsy/seizures: grand mal seizures for which he used medication until age of 5 years (seizure-free after this age). Other features: hearing slightly impaired on one side. Dysmorphic features: high and broad forehead, cowlicks, slightly deep-set eyes, mild synophrys, broad nose with short columella, protruding ears, broad mouth, prominent chin, short metacarpals of 4th and 5th fingers of left hand, short 5th middle phalanges. Growth parameters: short stature; height of 165 cm (-2.5 SD) and head circumference of 57.9 cm (+0.3 SD) at 19 years of age. Family history: non-consanguineous parents; younger brother with above average IQ.
 Borderline intellectual disability (total IQ of 77 on WISC-R at age of 9 years)
 NA
 NA
  223000
 NCBI36
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001604
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 56941680
 57197007
  255328
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004120
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 56903689
 57208726
  305038
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005138
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 56903689
 57199687
  295999
 GRCh38
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case1667
 NA
 NA
 ASD
 NA
 NA
 57393023
 57715878
  322855
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case18344
 NA
 NA
 ASD
 NA
 NA
 57393023
 57721254
  328231
 Unknown
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_12_ASD/DD/ID_discovery_cases-case5609
 FISH, aCGH, or confirmation by inheritance
 
 Paternal
 Unknown
 Unknown
 
 
 isrie_12_ID_discovery_cases-patient2
 
 
 Paternal
 Simplex
 Unknown
 N/A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001604
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004120
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005138
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 
 
 rosenfeld_10_ASD_discovery_cases-case1667
 FISH
 
 Paternal
 Unknown
 Unknown
 SPRY3,VAMP7
 
 rosenfeld_10_ASD_discovery_cases-case18344
 FISH
 
 Unknown
 Unknown
 Unknown
 SPRY3,VAMP7
 

Controls

No Control Data Available
No Animal Model Data Available
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