Description:
POTOCKI-LUPSKI SYNDROME; PTLS
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities PIGI Consented Sample |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Country of Origin
|
USA
|
Family Member
|
2
|
Family History
|
N
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis and Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Unaffected mother of affected child GM25580; had several miscarriages, with noted history of miscarriages on maternal side; has Postural Tachycardia Syndrome, with noted family history of cardiovascular manifestation; subject referenced in publication by Girirajan et al (Clin Genet. 2007; PMID: 17594399); other family in the repository include: husband (GM25582), son (GM25583), and daughter (GM25592). |
Girirajan S, Williams S, Garbern J, Nowak N, Hatchwell E, Elsea S, 17p112p12 triplication and del(17)q112q12 in a severely affected child with dup(17)p112p12 syndrome Clinical genetics72:47-58 2007 |
PubMed ID: 17594399 |
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