12p11.22-p11.21CNV Type: Deletion
Largest CNV size: 1370000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A deletion of unknown origin within this region was detected in a female patient with ASD and intellectual disability (Chen et al., 2014).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ben_mahmoud_23_ASD/ADHD/DD/ID_discovery_cases
Individuals with CNVs affecting the 12p11.22 locus containing at least one ASD candidate gene (from an initial cohort of 7 individuals with 12p11.23-p11.21 CNVs).
2
Both cases presented with developmental delay and intellectual disability; one case also presented with autism, while the another presented with ADHD.
Range, 4-11 yrs.
50% Male
2183382
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
1394972
0
1
1
chen_14_ASD/ID_discovery_cases
13-year-old female patient with an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12)(q24.3;p11.2)dn.
1
Diagnosis of ASD (according to DSM-IV criteria); case also presented with intellectual disability (IQ of 50)
13 yrs.
Female
1370000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ben_mahmoud_23_ASD/ADHD/DD/ID_discovery_cases
Argentina, Portugal
aCGH
Agilent 244K
ADM-2
Agilent Feature Extraction v.9.0, Agilent CGH analytics v.3.4.
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chen_14_ASD/ID_discovery_cases
Taiwan
aCGH
NimbleGen ISCA Plus
Nexus 6.1
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
ben_mahmoud_23_ASD/ADHD/DD/ID_discovery_cases-case6
11 yrs.
F
ADHD, developmental delay, and intellectual disability
Alternate patient ID DCP370033. Developmental delay, langauge/speech delay with speech articulation difficulties, hand/finger/feet/toe anomalies (large thumb, shortening of the 4th and 5th metacarpals and metatarsals, tapering fingers, short toes, short 4th metatarsal bone), behavioral problems (temper tantrums, short attention span, easy distractibility), ADHD, delayed ability to walk (22 months), recurrent headaches, obesity. Patient was of Portuguese ethnicity, her father has some learning difficulties and similar foot abnormalities, two paternal uncles have more severe learning disabilities, one younger sister has a unilateral third finger brachydactyly.
Mild intellectual disability, learning disability
28414984
30598365
2183382
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case369
N/A
M
Developmental delay
Abnormal brain structure and developmental delay
30023022
31417993
1394972
GRCh38
Duplication
No
chen_14_ASD/ID_discovery_cases-case1
13 yrs.
F
ASD and ID
Diagnosis of ASD (according to DSM-IV criteria). Birth/neonatal history: born at term with birth weight of 3280 g. Developmental milestones: speech delay noted at age of 3 years (led to early intervention). Motor and musculoskeletal evaluation: jumping-like gait; bilateral clinodactyly of the 5th fingers, bilateral pes cavus. Behavioral/psychiatric evaluation: found to have autism at age of 8 years; emotional instability, behavior problems. Other features: difficulty in self-care of menstruation. Dysmorphic features: microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease. Growth parameters: height of 161 cm, weight of 61 kg, and head circumference of 54.3 cm. Karyotype: apparently balanced reciprocal translocation [46,XX,t(8;12)(q24.3;p11.2)dn] identified at age of 8 years. Family history: healthy parents with normal karyotypes; 23-year-old mother and 25-year-old father at time of birth.
Intellectual disability and cognitive impairment (IQ score of 50); enrolled in special school for children with intellectual disability.
30492075
31861840
1369766
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
ben_mahmoud_23_ASD/ADHD/DD/ID_discovery_cases-case6
Paternal
Paternal
ERGIC2,FAR2,CCDC91,TMTC1,OVCH1,RPL21P99,RNA5SP356,OVCH1-AS1,LINC02386,RNA5SP355
chaves_19_ASD/DD/ID_discovery_cases-case369
Unknown
RNA5SP356,PPIAP44,MREGP1,LINC02387,RNU6-618P,CAPRIN2,DDX11,LINC02386,IPO8,LINC00941,TSPAN11,DDX11-AS1,SINHCAF,DENND5B
chen_14_ASD/ID_discovery_cases-case1
Unknown
Unknown (possible simplex)
Unknown
PPIAP44,MREGP1,FLJ13224,LINC02387,RNU6-618P,RNU5F-4P,RPL31P50,AK4P3,STMN1P1,H3F3C,RNU6-1069P,CAPRIN2,DDX11,DENND5B-AS1,ETFBKMT,IPO8,LINC00941,TSPAN11,DDX11-AS1,SINHCAF,AMN1,DENND5B
Controls
No Control Data Available
No Animal Model Data Available