Description:
XYY SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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Family Member
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3
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Relation to Proband
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father
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XYY
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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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| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Husband of GM01252; father of GM01253; phenotypically normal |
| Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LCA, Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform European journal of medical genetics62:103647 2019 |
| PubMed ID: 31026593 |
| |
| Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE, Detection of aneuploidies by paralogous sequence quantification Journal of medical genetics41:908-15 2004 |
| PubMed ID: 15591276 |
| |
| Mutter GL, Pomponio RJ, Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nucleic Acids Res19:4203-7 1991 |
| PubMed ID: 1678507 |
| |
| Friesen H, Nishioka Y, A molecular method for detecting the presence of the human Y chromosome. Am J Med Genet18:289-94 1984 |
| PubMed ID: 6087662 |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|