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Yq11.223CNV Type: Deletion-Duplication


Largest CNV size: 2238348 bp

Statistics Box:
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

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
NA
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
  NA NA
 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
  NA NA
 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
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