9q21.12-q21.2CNV Type: Deletion
Largest CNV size: 6500000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion involving this region was identified in a patient with developmental delay/intellectual disability and autistic behavior (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
6500000
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-case1
8 yrs.
M
Developmental delay/intellectual disability
Investigated on basis of severe early delayed psychomotor development. DECIPHER ID: 250158. Autistic behavior: yes (with bruxism). Behavioral problems/hyperactivity: not determined. Developmental retardation: yes. Speech disorder/speech delay: yes (no speech/only a few words). Epilepsy/seizures: yes (hypotonic seizures without abnormal movements appeared at age of 5 years, no recurrence since sodium valproate treatment). Hypotonia: no. Brain MRI: Chiari Type I. Height-weight delay: no. Facial dysmorphisms: yes (microcephaly, hypertelorism, wide nares, shirt columella, wide mouth, thin lips). Ocular abnormalities: no. Cardiac abnormalities: no. Skeletal malformations: no. Hypertrichosis: yes (on back). Birth parameters: born at term; height (cm), 53.5; weight (g), 3850; head circumference (cm), 34.5; Apgar, 10/10. Prenatal abnormalities: none.
Developmental delay/intellectual disability
71305158
76914055
5608898
GRCh38
Deletion
Yes
boudry-labis_12_DD/ID_discovery_cases-case2
8 yrs.
M
Developmental delay/intellectual disability
Referred for genetic consultation for speech delay. DECIPHER ID: 250165. Autistic behavior: yes. Behavioral problems/hyperactivity: no. Developmental retardation: yes (no psychomotor or speech delay in early childhood; following severe regression at 21 months, speech delay was then noted). Speech disorder/speech delay: yes (absence of complete sentences). Epilepsy/seizures: no. Hypotonia: no. Brain MRI: N/A. Height-weight delay: yes (height -2 SD, weight 0 SD, head circumference +1 SD). Facial dysmorphisms: yes (narrow forehead, midface flattening, horizontal palpebral fissures, long and featureless philtrum, slightly massive chin, synophrys). Ocular abnormalities: strabismus. Cardiac abnormalities: no. Skeletal malformations: no. Hypertrichosis: yes. Birth parameters: born at term after uneventful pregnancy and delivery; height (cm), N/A; weight (g), 4330; head circumference (cm), N/A; Apgar, N/A. Prenatal abnormalities: none. Karyotype: t(2;9)(q32;q13)dn.
Developmental delay/intellectual disability
70973872
77461752
6487881
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-case1
FISH
De novo
Unknown
Unknown (possibly segregated)
RPL35AP21,HSPB1P1,BTF3P4,RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,TRPM3,ZFAND5,GCNT1
boudry-labis_12_DD/ID_discovery_cases-case2
FISH
De novo
Unknown
Unknown (possibly segregated)
RPL35AP21,HSPB1P1,BTF3P4,RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,LYPLA2P3,FOXB2,ATP5MFP3,RFC5P1,VPS13A-AS1,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,GNA14-AS1,TRPM3,ZFAND5,GCNT1,GNA14
Controls
No Control Data Available
No Animal Model Data Available