12p12.2-p11.23CNV Type: Deletion
Largest CNV size: 6266322 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion within this locus was identified in an 11-month-old male proband presenting with mild global developmental delay and dysmorphic features from a cohort of 573 individuals from North West Spain with developmental delay/intellectual disability (Quintela et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
6266322
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
quintela_17_DD/ID_discovery_cases-caseID_358
11 mos.
M
Developmental delay
Dysmorphic facial features, perinatal ponderal delay
Mild global developmental delay
20847616
27113938
6266323
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
quintela_17_DD/ID_discovery_cases-caseID_358
De novo
Possibly segregated
ELOCP31,RNU1-149P,LRRC34P1,RPS27P22,MIR920,KNOP1P1,CENPUP2,RNU4-67P,TUBB4BP1,RN7SKP262,TDGP1,MIR4302,BHLHE41,RNA5SP354,C12orf71,PYROXD1,GOLT1B,SPX,GYS2,LDHB,KCNJ8,CMAS,SULT6B2P,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,ETFRF1,KRAS,RASSF8,INTS13,FGFR1OP2,MED21,SLCO1B3,SLCO1B1,SLCO1A2,IAPP,RECQL,ABCC9,ST8SIA1,C2CD5,ETNK1,BCAT1,LRMP,LMNTD1,RASSF8-AS1,ITPR2,TM7SF3,SLCO1B7,SOX5,SSPN,CASC1
Controls
No Control Data Available
No Animal Model Data Available