HELP     Sign In

11q13.2-q13.3CNV Type: Deletion


Largest CNV size: 2200000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo 11q13.2-q13.3 deletion was observed in a 5-year-old male from a simplex family who presented with mild intellectual disability, speech and motor delay, epilepsy and/or abnormal EEG, and dysmorphic features in Maini et al., 2018.

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            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
 2200000
 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-case56
  NA NA
 5 yrs.
 M
 Developmental delay and intellectual disability
 Birth history: born at 39 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: tapered fingers, cutaneous syndactyly of the foot F2/F3. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: cerebral malformations. Dysmorphic features: prominent forehead, small mouth, small and posteriorly rotated ears with folded helices. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
 Mild intellectual disability
 66590151
 68708375
  2118225
 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-case56
 
 
 De novo
 Simplex
 Possibly segregated
 CCDC87,RNU4-39P,RN7SL12P,C1QBPP2,FTLP6,RCE1,LRFN4,RNU7-23P,MIR3163,C11orf86,MIR6860,RN7SKP239,RNU6-1238P,TBC1D10C,RPS6KB2,RPS6KB2-AS1,GPR152,TMEM134,MIR6752,CDK2AP2,CABP2,C11orf72,NDUFV1,DOC2GP,NUDT8,RPL37P2,OR7E145P,ALG1L8P,RNU6-46P,RPS3AP40,OR7E1P,NDUFS8,MIR7113,MIR4691,MIR6753,C11orf24,NDUFA3P2,GAL,CCS,RBM14,RBM14-RBM4,RBM4,RBM4B,C11orf80,PC,SYT12,RHOD,GRK2,ANKRD13D,SSH3,POLD4,PPP1CA,CARNS1,CORO1B,PTPRCAP,CABP4,AIP,GSTP1,ACY3,ALDH3B2,UNC93B5,FAM86C2P,ENPP7P7,UNC93B1,TCIRG1,CHKA,TESMIN,SPTBN2,KDM2A,RAD9A,CLCF1,PITPNM1,TBX10,OR7E11P,ALDH3B1,LRP5,PPP6R3,KMT5B
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.