9q21.13-q21.2CNV Type: Deletion
Largest CNV size: 2200000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
De novo deletions within this region were identified in two cases with developmental delay/intellectual disability and epilepsy (Boudry-Labis et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
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
boudry-labis_12_DD/ID_discovery_cases
Nine patients with 9q21 deletions not previously reported in DECIPHER database
9
Developmental delay/intellectual disability in all 9 cases, autistic behavior in 7/9 cases (diagnosis of ASD in one case), epilepsy/seizures in 7/9 cases.
Range, 2-16 yrs.
77.78% Male
2200000
2
0
2
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
boudry-labis_12_DD/ID_discovery_cases
NA
aCGH, array SNP
Agilent 44K, Agilent 180K ISCA design, Agilent 180K, Agilent 105K, Affymetrix 6.0, Affymetrix 2.7M
FISH, qPCR, MLPA, karyotyping
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
boudry-labis_12_DD/ID_discovery_cases-case5
12 yrs.
M
Developmental delay/intellectual disability and epilepsy
DECIPHER ID: 250142. Autistic behavior: yes. Behavioral problems/hyperactivity: yes. Developmental retardation: yes. Speech disorder/speech delay: mildly hypernasal speech. Epilepsy/seizures: yes (development of idiopathic photosensitive occipital lobe epilepsy from 4-5 years of age; then seizure-free until 10 years of age when he presented with highly photosensitive severe generalized epilepsy with tonic-clonic seizures; abnormal EEG). Hypotonia: no. Brain MRI: slight hippocampal asymmetry. Height-weight delay: no (height -1 SD, weight +2 SD). Facial dysmorphisms: yes (long philtrum, thin upper lip). Ocular abnormalities: no. Cardiac abnormalities: no. Skeletal malformations: no. Hypertrichosis: no. Birth parameters: born at term; height (cm), N/A; weight (g), 3320; head circumference (cm), N/A; Apgar, N/A. Prenatal abnormalities: none.
Developmental delay, mild intellectual disability
74432553
76676416
2243864
GRCh38
Deletion
Yes
boudry-labis_12_DD/ID_discovery_cases-case7
16 yrs.
M
Developmental delay/intellectual disability and epilepsy
Referred for genetic consultation for developmental delay and therapy-resistant epilepsy. DECIPHER ID: 261683. Autistic behavior: no. Behavioral problems/hyperactivity: no. Developmental retardation: yes (psychomotor development retarded from the beginning; walked at 19 months). Speech disorder/speech delay: yes. Epilepsy/seizures: yes ( first complex partial seizure at 5.5 years; atypical absences; abnormal EEG). Hypotonia: yes. Brain MRI: normal. Height-weight delay: yes (height and weight both <-2 SD). Facial dysmorphisms: no. Ocular abnormalities: no. Cardiac abnormalities: no. Skeletal malformations: no. Hypertrichosis: no. Birth parameters: born at 39 weeks; height (cm), 51; weight (g), 3000; head circumference (cm), 33; Apgar, 10/10. Prenatal abnormalities: none; pregnancy complicated by bleeding in 12th week, planned C-section at 39th week. Family history: first of two children of healthy parents (normal sister).
Developmental delay/intellectual disability; IQ of 58 at 5 yrs. 9 mos., IQ of 47 at age of 10 yrs.
74443505
76662275
2218771
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
boudry-labis_12_DD/ID_discovery_cases-case5
FISH
De novo
Unknown
Unknown (possibly segregated)
RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,RORB-AS1,CARNMT1,NMRK1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,GCNT1
boudry-labis_12_DD/ID_discovery_cases-case7
qPCR
De novo
Simplex
Likely segregated
RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,RORB-AS1,CARNMT1,NMRK1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,GCNT1
Controls
No Control Data Available
No Animal Model Data Available