12p12.1-p11.1CNV Type: Deletion
Largest CNV size: 10466000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
soysal_11_ASD_discovery_cases
12 yr. autistic female with scoliosis referred for mild mental retardation (Dept. of Medical Genetics, Afyon Kocatepe Univ., Turkey)
1
ASD
12 yrs.
Female
10466000
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
soysal_11_ASD_discovery_cases-case1
12
F
ASD
Ascertained for ASD (criteria/testing unknown). History as child: starting to walk without support at 16 mo., speaking at 1 yr, using sentences at 3 yr., diffculty in toilet training. Able to follow normal school without aid. Attention deficit disorder noted by teachers. Normal EEG. Mild facial dysmorphism (microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, myope, mild inner epicanthal folds, arched eyebrows, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement). Phalangeal deformity in distal phalanges of hands. 5th finger camptodactyly. Brachydactyly of the feet. Hypotonia. History of joint hypermobility. Scoliosis. Growth parameters (12 yrs): weight 43.5 kg (50-75 %ile), length 154 cm (50-75 %ile), OFC 53 cm.
Mild-moderate mental retardation. Total IQ = 45 (WISC-R)
24186618
34652244
10466000
Unknown
Deletion
Yes
Controls
No Control Data Available
No Animal Model Data Available