5q35
Type
DuplicationAverage Length
1035492Range
178554060-179589550Associated Human Genes
-Associated Mouse Models
-Autism Reports
1Populations
1 (1 case / 0 control)Individuals
1 (1 case / 0 control)Summary
Mosaic duplication identified in a male patient with global developmental delay and dysmorphic features (Girirajan et al., 2012)
External Links
Reports related to 5q35 (1 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
5q35
Description:
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
Diagnosis:
Developmental delay with or without congenital malformations
Girirajan S , et al. (2012)Cohort Size: 32587
Age Min: 32
Age Max: 32
Average: 32
Male: 100
Female: -
Unknown: -
CNV Size: 1035490
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
girirajan_12_ASD/DD/ID_discovery_cases-case57860
Clinical Profile:
Global developmental delay. Normal tone. Dysmorphic features: perauricular pit, frontal bossing, borderline low-set ears. Congenital anomalies: 2-3 toe syndactyly, mottled skin hypopigmentation. Growth parameters: weight 75th-90th %ile, height 50th-75th %ile, OFC -0.8 SD. Family history: mother has learning disability.
Cognitive Profile:
Global developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 2 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 179127059
CNV End: 180162550
CNV Size: 1035492
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PRDX2P3, C5orf60, CBY3, LTC4S, MIR1229, RN7SKP150, RPS15AP18, MIR340, HNRNPH1, HMGB3P22, MAML1, MGAT4B, MRNIP, TBC1D9B, RASGEF1C, RUFY1, CANX, SQSTM1, RNF130, ADAMTS2
No control populations reported.
No control individuals reported.