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11q21-q22.3CNV Type: Deletion


Largest CNV size: 7600000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo 11q21-q22.3 deletion was observed in a 3-year-old male from a family with a positive history for neurodevelopmental disorders who presented with language disorder and multiple congenital anomalies (MCA) in Maini et al., 2018.

Additional Locus Information

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type

No Major Reports

Minor Reports

Title
Author, Year
Report Class
CNV Type
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 7600000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 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
  maini_18_ASD/DD/ID_discovery_cases-case175
  NA NA
 3 yrs.
 M
 Language disorder and MCA
 Birth history: born at 38 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: pectus excavatum. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: gastroenteric malformations, genital malformations, skin anomalies, endocrinologic anomalies. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
 Normal (no intellectual disability or learning disorder)
 95942165
 103399826
  7457662
 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
 maini_18_ASD/DD/ID_discovery_cases-case175
 
 
 De novo
 Not simplex
 Likely not segregated
 MIR1260B,RNA5SP346,MED28P5,RNA5SP347,RN7SKP53,RPA2P3,RN7SL222P,PPIAP43,RN7SKP115,MIR3920,RNA5SP535,RNU6-952P,MMP7,MMP8,MMP12,BOLA3P1,RNU7-159P,MMP13,CCDC82,ANGPTL5,CFAP300,YAP1,BIRC3,TMEM123,MMP20,MMP27,MMP10,MMP1,MMP3,DCUN1D5,MAML2,LINC02553,ARHGAP42,PGR,PGR-AS1,CEP126,BIRC2,DYNC2H1,JRKL,JRKL-AS1,CNTN5,TRPC6,WTAPP1
 

Controls

No Control Data Available
No Animal Model Data Available
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