10q22.3-q23.31CNV Type: Deletion
Largest CNV size: 7624000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Deletions in this region were identified in two male patients, one with autism and one with developmental delay.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
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
balciuniene_07_ASD_discovery_cases
Three unrelated patients with behavioral and/or neurodevelopmental abnormalities who presented to clinics at the University of Minnesota (n=1) and Johns Hopkins Hospital (n=2).
3
Autism (n=1; diagnosis based on ADOS); developmental delay (n=1); learning disability (n=1)
Range, 18 mos.-11 yrs.
100% Male
7624000
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
balciuniene_07_ASD_discovery_controls
Unaffected control samples
128
Control
NA
NA
7587000
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
balciuniene_07_ASD_discovery_cases
1 African-American, 2 NA
G-banded karyotyping
FISH, aCGH, array SNP
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
balciuniene_07_ASD_discovery_controls
NA
Array SNP
Affymetrix 100K
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
balciuniene_07_ASD_discovery_cases-case1
3 yrs. 6 mos.
M
Autism
Proband (III:7, from family UM10qDel-01) received a diagnosis of autism at 3 yrs. 6 mos.; diagnosis based on ADOS scores (communication score, 7; social interaction score, 12; total score, 19). Bayley Scales of Infant Development: score of <50 (age equivalent of 14 mos.). Preschool Language Scale, Third Edition (PLS-3): age equivalent of 8 mos. for both auditory comprehension and expressive communication. Normal hearing. Dysmorphic features: minor dysmorphic features. Growth parameters: head cirucmference, 54 cm (>95th %ile). Family history: other family members with deletion exhibit varying degrees of cognitive and behavioral abnormalities (sister of proband does not have autism, but had a history of speech and language delay; first cousins of proband confirmed to have speech and language disorder & ADHD, but do not meet ADOS criteria for autism; four aunts reported to have difficulty in school; two maternal uncles with ahistory of special education; maternal grandfather reported to have writing & spelling difficulties in school).
81624000
89211000
7587000
Unknown
Deletion
Yes
balciuniene_07_ASD_discovery_cases-case2
18 mos.
M
Developmental delay
Diagnosis of mild developmental delay (made at 8 months of age). Birth & neonatal history: birth weight, 3200 g; born to 16-yr-old primagravida; 38-week pregnancy complicated by glucose intolerance & detection of fetal hydrocephalus in 3rd trimester. Normal physical examination, except for presence of white forelock. No other phenotypic features suggestive of Waardenburg syndrome, type 3 (WS3). Brian MRI: retrocerebellar cyst with small cerebellum, compression of the 4th ventricle, and dilation of 3rd & lateral ventricles. Growth parameters: head circumference at birth, 39 cm (97th %ile); normal physical growth noted at 8 months. Family history: unremarkable.
Mild developmental delay
81626000
89250000
7624000
Unknown
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
balciuniene_07_ASD_discovery_cases-case1
FISH, aCGH, array SNP
Maternal
Simplex for autism/ASD; multiplex for cognitive abnormalities
Not segregated for autism; segregated for cognitive abnormalities
LOC387693, SFTPD, C10orf57, PLAC9, ANXA11, FLJ43836, MAT1A, DYDC1, DYDC2, C10orf58, TSPAN14, SH2D4B, NRG3, GHITM, C10orf99, PCDH21, LRRC22, LRRC21, RGR, KIAA1128, GRID1, KIAA0261, OPN4, LDB3, BMPR1A, MMRN2, SNCG, APM2, KIAA1975, GLUD1, FAM35A, FAM22A
balciuniene_07_ASD_discovery_cases-case2
aCGH
Unknown
Unknown
Unknown
LOC387693, SFTPD, C10orf57, PLAC9, ANXA11, FLJ43836, MAT1A, DYDC1, DYDC2, C10orf58, TSPAN14, SH2D4B, NRG3, GHITM, C10orf99, PCDH21, LRRC22, LRRC21, RGR, KIAA1128, GRID1, KIAA0261, OPN4, LDB3, BMPR1A, MMRN2, SNCG, APM2, KIAA1975, GLUD1, FAM35A, FAM22A
Controls
No Control Data Available
No Animal Model Data Available