Yq11.223-q11.23CNV Type: Duplication
Largest CNV size: 3684080 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kim_18_DD/ID_discovery_cases
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
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
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
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