Yq12CNV Type: Deletion
Largest CNV size: 328231 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
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