Yq11.223CNV Type: Deletion-Duplication
Largest CNV size: 2238348 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
CNVs within this region were identified in cases with developmental delay/intellectual disability in two recent reports (Kaminsky et al., 2011; Iourov et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
carbonell_19_ASD/ADHD/DD/ID_discovery_cases
Cases with heterozygous monogenic ANKS1B deletions: 4 cases from two families identified at Albert Einstein College of Medicine, 2 unrelated cases from Autism Speaks/MSSNG at the University of Toronto, 1 case identified through GeneMatcher, and 12 cases identified in DECIPHER.
19
Cases presented with a spectrum of neurodevelopmental disorders including ASD, ADHD, developmental delay (DD), and intellectual disability (ID)
Range, 2-35 years
57.89% Male
333490
0
1
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
246230
3
2
5
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
2238348
2
1
3
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
1470615
1
1
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
379000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
23264
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
carbonell_19_ASD/ADHD/DD/ID_discovery_cases
10 Caucasian, 1 South Asian, 1 Pakistani, 1 Maghreb, 6 not reported
CMA, WES, WGS
Illumina (WES)
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
PCR, qPCR
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-6
2 yrs.
M
ASD, developmental delay, and intellectual disability
Case identified in DECIPHER (DECIPHER ID 278996). Developmental milestones: developmental delay, speech delay, motor delay. Behavioral/psychiatric evaluation: ASD; auditory, olfactory, and oral sensitivity, aggressive behavior, sleep disturbance (waking at night), shouting, pica. Brain imaging: shallow arachnoid cyst in the middle of the cranial fossa anteriorly on the left. Additional medical history: cyclical vomiting. Growth parameters: head circumference 95th %ile.
Mild intellectual disability
20700717
21034206
333490
GRCh38
Duplication
gazzellone_14_ASD_discovery_cases-case550-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
20149845
20327458
177614
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case666-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
23269486
23472226
202741
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case670-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
20081228
20327458
246231
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case671-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
23269486
23472226
202741
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case672-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
23269486
23472226
202741
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case21
5 yrs.
M
Autism and intellectual disability
Speech delay, autism
Intellectual disability, cognitive delay
24757241
24912871
155631
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case30
2 yrs. 11 mos.
M
Intellectual disability
Speech delay, obesity, hypogenitalism
Mild intellectual disability
22674523
24912871
2238349
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case52
4 yrs. 6 mos.
M
Developmental delay/intellectual disability and autism
Autism. Karyotype: 9phqh.
Developmental delay/intellectual disability
21068172
23322259
2254088
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002374
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22028149
22349485
321337
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004968
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
22728116
24198731
1470616
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown252
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
21445985
21840320
394336
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
nord_11_ASD_discovery_controls-04C27090
Control
23277822
23301085
23264
Unknown
Deletion
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-6
Paternal
Simplex
HSFY4P,GAPDHP17,TMEM167AP1,TBL1YP1,RPS4Y2
gazzellone_14_ASD_discovery_cases-case550-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case666-3
Unknown
Unknown
Unknown
REREP1Y,DAZ2,PPP1R12BP2
gazzellone_14_ASD_discovery_cases-case670-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case671-3
Unknown
Unknown
Unknown
REREP1Y,DAZ2,PPP1R12BP2
gazzellone_14_ASD_discovery_cases-case672-3
Unknown
Unknown
Unknown
REREP1Y,DAZ2,PPP1R12BP2
iourov_12_ASD/ID/EP_discovery_cases-case21
Unknown
Unknown
Unknown
DAZ3,DAZ4
iourov_12_ASD/ID/EP_discovery_cases-case30
PCR or qPCR
Unknown
Unknown
Unknown
RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4
iourov_12_ASD/ID/EP_discovery_cases-case52
PCR or qPCR
Unknown
Unknown
Unknown
TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,RBMY1HP,RBMY1D,RBMY1J,TTTY4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002374
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004968
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y
maini_18_ASD/DD/ID_discovery_cases-case_unknown252
Paternal
Unknown
Unknown
FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY1B,RBMY1A1,TTTY13,RBMY1HP
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C27090
0 genes
No Animal Model Data Available