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22q13.3CNV Type: Deletion


Largest CNV size: 8550000 bp

Statistics Box:
Number of Reports: 2


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 dhar_10_DD/ASD_discovery_cases
 Patients with deletions in the 22q13.3 region (12 of these cases were originally from a cohort of 8550 samples referred to the Kleberg Cytogenetic Laboratory, Houston, TX from September 2005 to September 2007 for clinical aCGH)
 13
 Developmental delay (DD) and significant speech delay and/or loss of speech present in all cases. 3 cases with additional diagnosis of autism/ASD (1 with PDD-NOS, 2 with autism).
 Range, 3-31 yrs.
 46.15% Male
 8550000
 13
 0
 13
 munnich_19_ASD_discovery_cases
 Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
 502
 Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
 < 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
 69.92% Male
 N/A
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 dhar_10_DD/ASD_discovery_cases
  NA
 aCGH, FISH
  BACs aCGH, Agilent CMA V6 OLIGO, Agilent CMA V7.2 OLIGO
 
 
 FISH, partial karyotype, aCGH (Agilent 244K)
 munnich_19_ASD_discovery_cases
  France
 aCGH, karyotyping
  Agilent 60K
 
 
 FISH

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
  dhar_10_DD/ASD_discovery_cases-patient1
 9 yrs.
 M
 ASD
 Autism/ASD: Yes (diagnosis of autism). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: Yes. Epilepsy/seizures: Yes. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Brain imaging: brain asymmetry with larger size of lateral ventricle compared to the right and loss of normal left temporal horn morphology detected on MRI. Dysmorphic features: none. Growth parameters: Normal.
 Developmental delay
 49470414
 49565875
  95000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient10
 3 yrs.
 F
 Developmental delay
 Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: Yes. Lymphedema: No. Feeding problems: Yes. Recurrent infections: No. Brain imaging: mildly delayed myelination. Dysmorphic features: macrotia, bulbous nose, pointed chin, large hands, small toe nails. Growth parameters: Normal.
 Developmental delay
 41336207
 49565875
  8230000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient11
 9 yrs.
 M
 Developmental delay
 Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: epicanthal folds, macrotia, bulbous nose. Growth parameters: Normal. Karyotype: ring chromosome 22.
 Developmental delay
 41122568
 49565875
  8440000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient12
 5 yrs.
 M
 Developmental delay
 Patient was ventilator-dependent and unable to move; no beahvior assessment possible. Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): No. Regression: No. Epilepsy/seizures: Yes. Hypotonia: Yes (neonatal hypotonia). Lymphedema: Yes. Feeding problems: Yes. Recurrent infections: Yes (pneumonia). Dysmorphic features: macrotia, large hands. Growth parameters: Short stature. Karyotype: ring chromosome 22.
 Developmental delay
 NA
 NA
  8550000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient13
 15 yrs.
 F
 Developmental delay
 Autism/ASD: No (had formal testing but did not meet criteria for diagnosis). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: none. Growth parameters: Short stature.
 Developmental delay
 NA
 NA
  NA
 Unknown
 Deletion
 No
  dhar_10_DD/ASD_discovery_cases-patient2
 3 yrs.
 F
 Developmental delay
 Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: Yes. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: macrotia, bulbous nose. Growth parameters: Normal.
 Developmental delay
 49470414
 49565875
  95000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient3
 13 yrs.
 M
 Developmental delay
 Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: Unknown. Lymphedema: No. Feeding problems: Unknown. Recurrent infections: No. Brain imaging: mild thinning of the corpus callosum, mildly delayed myelination. Dysmorphic features: macrotia. Growth parameters: Normal.
 Developmental delay
 NA
 NA
  504000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient4
 9 yrs.
 M
 ASD
 Autism/ASD: Yes (diagnosis of autism). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No (abnormal EEG, but no clinically apparent seizure disorder). Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: epicanthal folds, macrotia, bulbous nose, large hands. Growth parameters: Normal.
 Developmental delay
 48554059
 49565875
  1010000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient5
 3 yrs.
 F
 ASD
 Autism/ASD: Yes (diagnosis of PDD-NOS). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: No. Feeding problems: No. Recurrent infections: Yes (ear infections). Brain imaging: mild thinning of the corpus callosum. Dysmorphic features: macrotia, bulbous nose. Growth parameters: Normal.
 Developmental delay. Developmental quotient (DQ) < 50.
 46458243
 49499770
  3030000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient6
 11 yrs.
 F
 Developmental delay
 Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Y. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: Yes. Lymphedema: No. Feeding problems: No. Recurrent infections: No. Dysmorphic features: bulbous nose. Growth parameters: Accelerated growth.
 Developmental delay
 46503752
 49565875
  3060000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient7
 19 yrs.
 M
 Developmental delay
 Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: No. Hypotonia: No. Lymphedema: Yes. Feeding problems: Yes. Recurrent infections: No. Dysmorphic features: epicanthal folds, macrotia, bulbous nose, pointed chin, large hands, small toe nails. Growth parameters: Accelerated growth.
 Developmental delay
 43915475
 49565875
  5650000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient8
 5 yrs.
 F
 Developmental delay
 Autism/ASD: N/A (patient did not receive formal neuropsychological evaluation). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: Yes. Hypotonia: Yes. Lymphedema: No. Feeding problems: Yes. Recurrent infections: Yes (urinary tract infections). Brain imaging: mildly delayed myelination. Dysmorphic features: bulbous nose, large hands. Growth parameters: Normal.
 Developmental delay
 43901019
 49565875
  5660000
 Unknown
 Deletion
 Yes
  dhar_10_DD/ASD_discovery_cases-patient9
 31 yrs.
 F
 Developmental delay
 Autism/ASD: No (had formal testing but did not meet criteria for diagnosis). Speech delay/loss of speech: Yes. Behavioral issues (such as repetitive behaviors, impaired socialization, hyperactivity, and self-stimulation): Yes. Regression: No. Epilepsy/seizures: Yes. Hypotonia: No. Lymphedema: Yes. Feeding problems: Yes. Recurrent infections: Yes (upper respiratory tract infections). Dysmorphic features: epicanthal folds, macrotia, bulbous nose, pointed chin, large hands, small toe nails. Growth parameters: Normal.
 Developmental delay
 43772118
 49565875
  5790000
 Unknown
 Deletion
 Yes
  munnich_19_ASD_discovery_cases-case18
 N/A
 F
 ASD
 Case diagnosed with ASD based on DSM criteria. CNV detected by karyotype and FISH analysis (cosmid probe c106G1220P, location 22q13.3, locusSHANK3).
 
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 dhar_10_DD/ASD_discovery_cases-patient1
 FISH, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 SHANK3,ACR,RABL2B
 
 dhar_10_DD/ASD_discovery_cases-patient10
 FISH, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 POLDIP3,CYB5R3,ATP5L2,A4GALT,ARFGAP3,PACSIN2,TTLL1,BIK,MCAT,TSPO,TTLL12,SCUBE1,MPPED1,EFCAB6,SULT4A1,PNPLA5,PNPLA3,SAMM50,PARVB,PARVG,KIAA1644,LDOC1L,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,NUP50,KIAA0930,UPK3A,FAM118A,SMC1B,RIBC2,FBLN1,ATXN10,WNT7B,C22orf26,PPARA,C22orf40,PKDREJ,TTC38,GTSE1,TRMU,CELSR1,GRAMD4,CERK,TBC1D22A,FAM19A5,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
 
 dhar_10_DD/ASD_discovery_cases-patient11
 FISH, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 NFAM1,RRP7A,SERHL2,POLDIP3,CYB5R3,ATP5L2,A4GALT,ARFGAP3,PACSIN2,TTLL1,BIK,MCAT,TSPO,TTLL12,SCUBE1,MPPED1,EFCAB6,SULT4A1,PNPLA5,PNPLA3,SAMM50,PARVB,PARVG,KIAA1644,LDOC1L,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,NUP50,KIAA0930,UPK3A,FAM118A,SMC1B,RIBC2,FBLN1,ATXN10,WNT7B,C22orf26,PPARA,C22orf40,PKDREJ,TTC38,GTSE1,TRMU,CELSR1,GRAMD4,CERK,TBC1D22A,FAM19A5,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
 
 dhar_10_DD/ASD_discovery_cases-patient12
 FISH
 
 Unknown
 Unknown
 Unknown
 NA (includes at least a complete or partial deletion of SHANK3)
 
 dhar_10_DD/ASD_discovery_cases-patient13
 
 
 Unknown
 Unknown
 Unknown
 NA (includes at least a complete or partial deletion of SHANK3)
 
 dhar_10_DD/ASD_discovery_cases-patient2
 FISH, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 SHANK3,ACR,RABL2B
 
 dhar_10_DD/ASD_discovery_cases-patient3
 FISH
 
 Unknown
 Unknown
 Unknown
 NA (includes at least a complete or partial deletion of SHANK3)
 
 dhar_10_DD/ASD_discovery_cases-patient4
 FISH, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
 
 dhar_10_DD/ASD_discovery_cases-patient5
 FISH, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 FAM19A5,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3
 
 dhar_10_DD/ASD_discovery_cases-patient6
 Partial karyotype, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 FAM19A5,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
 
 dhar_10_DD/ASD_discovery_cases-patient7
 FISH, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 NUP50,KIAA0930,UPK3A,FAM118A,SMC1B,RIBC2,FBLN1,ATXN10,WNT7B,C22orf26,PPARA,C22orf40,PKDREJ,TTC38,GTSE1,TRMU,CELSR1,GRAMD4,CERK,TBC1D22A,FAM19A5,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
 
 dhar_10_DD/ASD_discovery_cases-patient8
 FISH, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 NUP50,KIAA0930,UPK3A,FAM118A,SMC1B,RIBC2,FBLN1,ATXN10,WNT7B,C22orf26,PPARA,C22orf40,PKDREJ,TTC38,GTSE1,TRMU,CELSR1,GRAMD4,CERK,TBC1D22A,FAM19A5,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
 
 dhar_10_DD/ASD_discovery_cases-patient9
 Partial karyotype, aCGH (Agilent 244K)
 
 Unknown
 Unknown
 Unknown
 PHF21B,NUP50,KIAA0930,UPK3A,FAM118A,SMC1B,RIBC2,FBLN1,ATXN10,WNT7B,C22orf26,PPARA,C22orf40,PKDREJ,TTC38,GTSE1,TRMU,CELSR1,GRAMD4,CERK,TBC1D22A,FAM19A5,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
 
 munnich_19_ASD_discovery_cases-case18
 FISH
 
 De novo
 
 
 CNV gene content N/A
 

Controls

No Control Data Available
No Animal Model Data Available
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