6p21.2-p21.1CNV Type: Deletion
Largest CNV size: 5000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 6p21.2-p21.1 deletion was observed in a 28-year-old female from a simplex family who presented with mild intellectual disability, speech and motor delay, language disorder, epilepsy and/or abnormal EEG, dysmorphic features, and multiple congenital anomalies (MCA) 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
5000000
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-case39
28 yrs.
F
Developmental delay and intellectual disability
Birth history: born at 39 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: fingerpads, brachydactyly F5, brachymetarsia F4, skeletal anomalies, nail dystrophy, dysplastic nail of the hallux. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: congenital heart defects, gastroenteric malformations, hearing loss, ocular anomalies. Dysmorphic features: long palpebral fissures, hypertelorism, wide nasal bridge, large tip, short columella, arched palate, dental enemal dysplasia, low-set ears with thick helices. Growth parameters: normal head circumference, short stature. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Mild intellectual disability
39156672
44153262
4996591
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-case39
De novo
Simplex
Possibly segregated
E2F4P1,RNU1-54P,LINC00951,RNU6-250P,UNC5CL,TSPO2,TREML1,TREM2,TREML2,TREML3P,RNA5SP207,TREML5P,RNU6-643P,MIR4641,NPM1P51,PRICKLE4,TOMM6,RNU6-761P,MRPS10,RNU6-890P,ATP6V0CP3,RPL7L1,C6orf226,PTCRA,CNPY3,RPL24P4,GNMT,MEA1,KLHDC3,RN7SL403P,DNPH1,RPL12P47,RPS2P28,MIR6780B,RNU6-1113P,LRRC73,POLH-AS1,LINC02537,C6orf223,KCNK17,MOCS1,OARD1,APOBEC2,NFYA,ADCY10P1,TREML4,TREM1,NCR2,FOXP4-AS1,LINC01276,MDFI,TFEB,PGC,FRS3,MED20,BYSL,C6orf132,GUCA1A,GUCA1B,PRPH2,TBCC,PEX6,RRP36,CUL7,KLC4,MRPL2,SRF,CUL9,SLC22A7,CRIP3,ZNF318,ABCC10,DLK2,TJAP1,XPO5,POLH,GTPBP2,MAD2L1BP,MRPS18A,MRPL14,TMEM63B,KCNK5,KCNK16,KIF6,TUBBP9,TDRG1,LRFN2,FOXP4,USP49,TAF8,TRERF1,UBR2,BICRAL,PTK7,TTBK1,POLR1C,YIPF3,RSPH9,VEGFA,DAAM2,PPP2R5D,CCND3
Controls
No Control Data Available
No Animal Model Data Available