Copy Number Variants / 5q35

5q35

Type
Duplication
Average Length
1035492
Range
178554060-179589550
Associated Human Genes
-
Associated Mouse Models
-
Autism Reports
1
Populations
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)

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)
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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: -
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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
Show all Control Details Show all Cohort Details

No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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