Xp22.33-p22.2CNV Type: Duplication
Largest CNV size: 15954887 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
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.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
7392677
1
0
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
11731308
5
1
6
margari_14_ASD/ID_discovery_cases
15-year-old female patient presenting with MLS syndrome with associated ASD features
1
Case diagnosed with ASD (CARS and ADI-R), moderate intellectual disability, and microphthalmia with linear skin defects (MLS) syndrome.
15 yrs.
Female
12948721
1
0
1
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
15954887
0
1
1
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
9732939
1
0
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
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
margari_14_ASD/ID_discovery_cases
Italy
aCGH
Cytochip oligo ISCA 4x44K
BlueFuse Multi v3.1
FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
iourov_12_ASD/ID/EP_discovery_cases-case8
10 yrs.
F
Developmental delay/intellectual disability
Facial dysmorphisms, single transverse palmar crease, pectus excavatum, seizures, short neck
Developmental delay/intellectual disability
2415856
9758534
7342679
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000995
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
11240163
11229485
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001169
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
11803947
11793269
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004335
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3057092
13615172
10558081
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004379
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20140
10259836
10239697
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004537
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10479
10034145
10023667
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004744
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2777300
10034145
7256846
GRCh38
Deletion
Yes
margari_14_ASD/ID_discovery_cases-case1
15 yrs.
F
ASD, ID and MLS
CARS score of 44 points (cut-off score of 30), indicating severe autism; diagnosis confirmed by ADI-R. Case also diagnosed with microphthalmia with linear skin defects (MLS) syndrome. Birth/neonatal history: IUGR revealed at 22nd gestational week; born at 38 weeks gestation via emergency C-section due to fetal distress; birth weight of 2530 g (10th %ile), length of 47 cm (10th-50th %ile), and head circumference of 33 cm (10th-50th %ile); Apgar scores of 7 and 8; patient intubation required immediately after birth due to several respiratory distress events; slight asymmetry of cerebral ventricles with hyperechogenicity of parenchyma on superior-lateral horns of lateral ventricles detected by ultrasound examination of the brain. Developmental milestones: slightly delayed motor development (walking independently at 2 years of age); speech development was normal until 18-24 months of age (able to speak simple sentences), followed by echolalia and verbal stereotypy; further deterioration of language and cognitive abilties with loss of previously acquired skills at age of 30 months. Language and communication evaluation: communication limited to two-three single words and vocalizations such as vowel sounds or unintelligible verbalizations; failure to compensate through gestures. Motor and musculoskeletal evaluation: micromelia, lower limb asymmetry, left scoliosis, pes cavus bilaterally; broad based gaint, diffuse hypotonia. Behavioral/psychiatric evaluation: social withdrawal, limited emotional non-verbal contact, lack of social skills, stereotypic and repetitive motor mannerisms, many restricted, ritualistic and "sameness" behaviors, self-harm tendencies, restricted personal autonomy; sleep disturbances (difficulty falling asleep). Ophthalmologic evaluation: right eye microphthalmia with opaque cornea and left eye anophthalmia (with a prosthesis); total blindness in left eye, perception of light in right eye. Brain imaging: slight hyperintensity in peritrigonal white matter bilaterally on brain MRI. Dysmorphic features: flattened occiput, hypotelorism, low setting ears, micrognathia, scar-like aplasia cutis following the Blaschko lines along the cheek, nose, and chin. Growth parameters: microcephaly (head circumference <3rd %ile); height <3rd %ile; weight <3rd %ile. Family history: case born to 28-year-old father and 27-year-old mother; phenotypically normal father and sister; mother presented with relatively short stature (160 cm), corneal degeneration, and left eye prosthesis; family history remarkable for not-otherwise-specified anxiety disorders and epilepsy in the maternal line.
Moderate intellectual disability (based on empirical judgment, as cognitive abilities could not be assessed using standardized intelligence test due to case's severe blindness); Vineland Adpative Behavior Scale showed severe deficits in adaptive behaviors
10001
12931303
12921303
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case27265
NA
NA
ASD
NA
NA
701
15955588
15954887
Unknown
Duplication
Yes
sandoval_talamantes_23_ASD_discovery_cases-caseAUT167
NA
NA
ASD and intellectual disability
Case met DSM-5 diagnostic criteria for ASD. Case also presented with short stature, intellectual disability, and macrocephaly.
Intellectual disability
10678
9743616
9732939
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
iourov_12_ASD/ID/EP_discovery_cases-case8
Unknown
Unknown
Unknown
MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,STS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000995
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,STS,MID1,ARHGAP6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001169
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,MIR548AX,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,MSL3,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,STS,MID1,ARHGAP6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004335
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,MIR548AX,FRMPD4-AS1,RPL17P49,RN7SKP290,PSMA6P2,TLR8-AS1,GS1-600G8.3,GPX1P1,RPL30P15,MIR6086,RN7SKP20,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,MSL3,PRPS2,TLR7,TLR8,FAM9C,LINC02154,ATXN3L,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,MRPL35P4,TMSB4X,LINC01203,STS,MID1,ARHGAP6,FRMPD4,EGFL6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004379
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,STS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004537
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,STS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004744
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,STS
margari_14_ASD/ID_discovery_cases-case1
FISH
Maternal
Simplex (for ASD/ID)
Unknown (no indication if unaffected female sibling was tested for deletion)
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,MTND6P12,MTCYBP12,MIR4770,VCX3A,RPS27AP17,MIR4767,VCX,MIR651,VCX2,VCX3B,DRAXINP1,RNA5SP499,EIF5P1,HMGN1P33,CLDN34,RNU6-800P,HCCS,AMELX,MIR548AX,FRMPD4-AS1,RPL17P49,RN7SKP290,PSMA6P2,TLR8-AS1,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,PNPLA4,FAM9A,GPR143,WWC3-AS1,MSL3,PRPS2,TLR7,TLR8,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX,NLGN4X,PUDP,ANOS1,FAM9B,TBL1X,SHROOM2,WWC3,CLCN4,MRPL35P4,STS,MID1,ARHGAP6,FRMPD4
rosenfeld_10_ASD_discovery_cases-case27265
FISH
Unknown
Unknown
Unknown
PLCXD1,GTPBP6,PPP2R3B,SHOX,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL,P2RY8,AKAP17A,ASMT,DHRSX,ZBED1,CD99,XG,GYG2,ARSD,ARSE,ARSH,ARSF,MXRA5,PRKX,NLGN4X,VCX3A,HDHD1,STS,VCX,PNPLA4,VCX2,VCX3B,KAL1,FAM9A,FAM9B,TBL1X,GPR143,SHROOM2,LOC100288814,WWC3,CLCN4,MID1,HCCS,ARHGAP6,AMELX,MSL3,FRMPD4,PRPS2,TLR7,TLR8,TMSB4X,FAM9C,ATXN3L,EGFL6,TCEANC,RAB9A,TRAPPC2,OFD1,GPM6B,GEMIN8,GLRA2,FANCB,MOSPD2,ASB9,ASB11,PIGA,FIGF,PIR,BMX,ACE2,TMEM27,CA5B,ZRSR2,AP1S2
sandoval_talamantes_23_ASD_discovery_cases-caseAUT167
Unknown
ASMT,SLC25A6,ARSD,ASS1P4,ARSL,STS,ARSF,CSF2RA,VCX,PPP2R3B,VCX3A,VCX2,PLCXD1,NLGN4X,CRLF2,ASMTL-AS1,FAM9A,FAM9B,DHRSX,IL3RA,LINC00685,P2RY8,ARSH,RPS27AP17,NOLC1P1,RPS5P8,VCX3B,CD99P1,RPL14P5,MIR651,LINC00106,DRAXINP1,ANAPC15P1,RPS27AP20,LINC01546,RPL24P9,ANOS1,CD99,GPR143,HADHBP1,BRK1P1,LINC00102,MIR3690,MIR4770,ARSD-AS1,MIR4767,RNA5SP499,GYG2-AS1,PRKX-AS1,PRKX,MIR6089,KRT18P53,DHRSX-IT1,TBL1X,SHOX,RN7SL578P,FABP5P13,RNA5SP498,RNU6-146P,RNU6-114P,MTCYBP12,MTND6P12,SNORA48B,PNPLA4,GYG2,GTPBP6,XG,AKAP17A,ASMTL,PUDP,RPS24P21,ZBED1,MXRA5
Controls
No Control Data Available
No Animal Model Data Available