9q21.11-q21.31CNV Type: Deletion
Largest CNV size: 12600000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A maternally-inherited deletion involving this region was identified in a patient with developmental delay/intellectual disability (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
12600000
1
0
1
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-case9
4.5 yrs.
M
Developmental delay/intellectual disability
Referred to genetic counselling for developmental delay and generalized epilepsy. DECIPHER ID: 258216. Autistic behavior: no. Behavioral problems/hyperactivity: no. Developmental retardation: yes (slight delay in development; started walking with support at 2 years 10 months; pyschomotor retardation and motor delay). Speech disorder/speech delay: yes (significant expressive language delay). Epilepsy/seizures: yes (first seizure at 2 yrs. 2 mos. that were successfully treated with levetiracetam, EEG with epileptic spikes and slow background activity). Hypotonia: yes. Brain MRI: delayed myelination, arachnoid cyst. Height-weight delay: yes (weight 0 SD, height -0.5 SD, OFC -1 SD). Facial dysmorphisms: yes (hypertelorism, slightly down-slanting palpebral fissures, micrognathia, thin upper lip, long featureless philtrum, short nose, flat nasal bridge, 5th finger clinodactyly, sacral dimple, shawled scrotum, wide-spaced nipples). Ocular abnormalities: astigmatism. Cardiac abnormalities: no. Skeletal malformations: no. Hypertrichosis: no. Birth parameters: uneventful pregnancy; height (cm), N/A; weight (g), N/A; head circumference (cm), N/A; Apgar, 9/9/10. Prenatal abnormalities: no. Family history: non-consanguineous healthy parents, unaffected mother is mosaic for 9q21 deletion (50% in blood).
Developmental delay/intellectual disability; IQ 50-60.
68335099
80977531
12642433
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-case9
MLPA
Maternal
Unknown
Unknown
PGM5-AS1,TMEM252,LINC01506,FAM122A,RNU6-820P,PRKACG,C9orf135-DT,RN7SL570P,RNU2-5P,RPL24P8,RN7SL726P,MIR204,PIGUP1,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,NUTF2P3,RNU6-1303P,RN7SKP59,MTND2P8,CHCHD2P9,NPAP1P6,LINC01507,NPAP1P4,MTCO1P51,MTND2P9,RPS19P6,BANCR,SMC5,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,PSAT1,LNCARSR,PGM5,PIP5K1B,FXN,FAM189A2,APBA1,PTAR1,C9orf135,MAMDC2-AS1,MAMDC2,KLF9,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,GNA14-AS1,GNAQ,CEP78,KRT18P24,TJP2,SMC5-AS1,TRPM3,ZFAND5,GCNT1,GNA14,TLE4
Controls
No Control Data Available
No Animal Model Data Available