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Yq11.223-q11.23CNV Type: Duplication


Largest CNV size: 3684080 bp

Statistics Box:
Number of Reports: 3



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

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
NA
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kim_18_DD/ID_discovery_cases
  NA NA
 Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
 50
 All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
 Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
 52.0% Male
 3800000
 0
 1
 1
 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
 2454000
 1
 0
 1
 vaags_11_ASD_replication_cases_2
 Replication cohort consisting of patients referred to the Mayo Clinic
 1796
 Autism or pervasive developmental disorder (PDD)
 NA
 NA
 3684080
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kim_18_DD/ID_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 vaags_11_ASD_replication_cases_2
  NA
 aCGH
  Agilent 44K & 244K
 
 
 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
  kim_18_DD/ID_discovery_cases-case25
  NA NA
 11 yrs. 7 mos.
 M
 Developmental delay/intellectual disability and autism
 Autism
 Severe developmental delay/intellectual disability
 22513966
 26318566
  3804601
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown253
  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 pathogenic (VOUS-LP), CNV reported as Yq11.22-q11.23 in original report
 
 22728154
 25182187
  2454034
 GRCh38
 Deletion
 No
  vaags_11_ASD_replication_cases_2-probandF4-003
 3 yrs. 6 mos.
 M
 Autism
 Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
 Leiter-R IQ: incomplete (test attempted but proband failed to complete)
 22371449
 26055528
  3684080
 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
 kim_18_DD/ID_discovery_cases-case25
 
 
 Unknown
 
 
 ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,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,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown253
 
 
 De novo
 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,ZNF736P5Y,ZNF736P4Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C
 
 vaags_11_ASD_replication_cases_2-probandF4-003
 
 
 Unknown
 Simplex
 Unknown
 TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,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,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6
 

Controls

No Control Data Available
No Animal Model Data Available
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