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22q13.1-q13.33CNV Type: Duplication


Largest CNV size: 10600000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A 10.6 Mb duplication in the q arm of chromosome 22 was observed in an autistic female with mitochondrial disease.

Additional Locus Information

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USCS Symbol             NCBI Symbol

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Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mitochondrial disease in 22q13 duplication syndrome.
Duplication

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
 frye_12_ASD_discovery_cases
 Autistic female with ASD and mitochondrial disease
 1
 Case diagnosed with ASD (initial diagnosis at 3 years; DSM-IV criteria met and diagnosis confirmed at 4 years). Additional characteristics: mitochondrial disease, hypotonia, developmental delays, growth deficiency, microcephaly, facial dysmorphism, and white matter abnormalities.
 4 yrs.
 Female
 10600000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 frye_12_ASD_discovery_cases
  NA
 aCGH
  GeneDX v4 oligoarray
 
 
 qPCR

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
  frye_12_ASD_discovery_cases-case1
 4 yrs.
 F
 ASD
 Initially diagnosed with ASD at 3 years of age; at 4 years of age, met DSM-IV criteria for diagnosis of ASD, diagnosis of ASD confirmed by ADOS examination. Birth/neonatal history: born preterm at 34 weeks gestation following pregnancy complicated by oligohydramnios and diet-controlled gestational diabetes; unremarkable neonatal course. Developmental milestones: normal development until 5 months; global developmental delay (did not crawl until 21 months, did not walk until 30 months, did not say "Mama" until 3 years); Denver Developmental Scale (at 4 years) showed social milestones at 2 years of age, fine motor milestones at 15 months of age, language milestones at 1 year of age, and gross motor milestones at 3 years of age. Language and communication evaluation: non-verbal. Motor and musculoskeletal evaluation: hypotonia; muscle biopsy revealed myofiber irregularity, fibers with increased sarcoplasmic lipid, succinate dehydrogenase-hyperactive fibers, increased number of abnormal subsacrolemmal mitochondria, degenerating mitochondria, and increased lipid-like deposits; depressed electron transport chain function in muscle tissue in all complexes except complex II. Behavioral/psychiatric evaluation: unusually friendly, frequent repetitive movements. Epilepsy/seizures: suffered 10-minute generalized tonic-clonic seizure at 4 years. EEG: frequent moderate-to-high amplitude focal sharp waves, spikes, and spike-and-wave discharges from right centrotemporal region, which occasionally occurred synchronously with discharges from left centrotemporal region. Brain MRI: non-specific bilateral small focal areas of increased T2 & fluid attenuated inverse recovery signal in occipital lobes (most consistent with incomplete myelination); mild prominence of right occipital and temporal horns. Metabolic evaluation: elevated lactate, pyruvate, creatine kinase, serum alanine-to-lysine ratio, acyl-carnitines, and urine organic acids; elevated CSF lactate. Dysmorphic features: small forehead, low-set small ears, small eyes, midface hypoplasia, maculopapular rash on back, fine capillary hemangiomas on cheeks. Growth parameters: symmetric growth retardation; height, 91.5 cm (<1%ile); weight, 13 kg (<1%ile), head circumference, 46 cm (<1%ile). Family history: four siblings with no neurodevelopmental disorders; history of early dementia and bipolar disorder on paternal side, history of multiple miscarriages in mother and maternal grandmother.
 Global developmental delay
 40561491
 51186190
  10600000
 Unknown
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 frye_12_ASD_discovery_cases-case1
 qPCR
 
 Unknown
 Simplex
 Unknown
 TNRC6B,ADSL,SGSM3,MKL1,SLC25A17,XPNPEP3,MCHR1,ST13,DNAJB7,RBX1,EP300,L3MBTL2,CHADL,RANGAP1,ZC3H7B,TEF,TOB2,PHF5A,ACO2,POLR3H,CSDC2,PMM1,PPPDE2,XRCC6,NHP2L1,C22orf46,MEI1,CCDC134,SREBF2,SHISA8,TNFRSF13C,CENPM,SEPT3,WBP2NL,NAGA,FAM109B,C22orf32,NDUFA6,CYP2D6,TCF20,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
 

Controls

No Control Data Available
No Animal Model Data Available
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