11q13.2-q13.3CNV Type: Deletion
Largest CNV size: 2200000 bp
Statistics Box:
Number of Reports: 1
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
References
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
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
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
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