9q21.12-q21.31CNV Type: Deletion
Largest CNV size: 9900000 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 a diagnosis of ASD (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
9900000
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-case4
2 yrs.
M
Developmental delay/intellectual disability and ASD
Referred for genetic evaluation for psychomotor delay. DECIPHER ID: 253847. Autistic behavior: yes (diagnosed with ASD). Behavioral problems/hyperactivity: yes. Developmental retardation: yes (walked at 20 months, began speaking with few words at 23 months). Speech disorder/speech delay: yes. Epilepsy/seizures: no. Hypotonia: no. Brain MRI: normal. Height-weight delay: yes (height -2 SD, weight and head circumference both -1 SD). Facial dysmorphisms: yes (short nose, long philtrum, thin upper lip, short hands). Ocular abnormalities: no. Cardiac abnormalities: no. Skeletal malformations: no. Hypertrichosis: no. Birth parameters: height (cm), 48; weight (g), 3090; head circumference (cm), 34.5; Apgar N/A; neonatal feeding difficulties. Prenatal abnormalities: yes (large umbilicus nuchal translucency). Karyotype: normal (46, XY).
Developmental delay/intellectual disability
71046891
80917474
9870584
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-case4
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,NUTF2P3,RNU6-1303P,RN7SKP59,MTND2P8,CHCHD2P9,NPAP1P6,LINC01507,NPAP1P4,MTCO1P51,MTND2P9,RPS19P6,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,PSAT1,LNCARSR,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,GNA14-AS1,GNAQ,CEP78,KRT18P24,TRPM3,ZFAND5,GCNT1,GNA14,TLE4
Controls
No Control Data Available
No Animal Model Data Available