Description:
JACOBSEN SYNDROME; JBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Country of Origin
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USA
|
|
Family Member
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1
|
|
Relation to Proband
|
proband
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|
Confirmation
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Clinical summary/Case history
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|
ISCN
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46,XX,del(11)(pter->q24.1:)
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Species
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Homo sapiens
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Common Name
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Human
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|
Remarks
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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; onset of symptoms and diagnosis in infancy; dysmorphic facial features; hypertelorism; fine and gross motor delay; speech delay; mental retardation; thrombocytopenia. |
| Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023 |
| PubMed ID: 38201393 |
| |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
| |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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