NA04375
DNA from Fibroblast
Description:
XXY SYNDROME; KLINEFELTER 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
dbGaP |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
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proband
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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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48,XXYY.arr(X)x2,Yp11.31p11.223(2710425-23302179)x2,Yq11.23q12(26868023-27209311)x2
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter |
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Chromosome Y: ANEUPLOID Aneuploid Segment (+)Ypter>Yqter |
| Remarks |
Klinefelter's syndrome variant |
| Chien CW, Tang YA, Jeng SL, Pan HA, Sun HS, Blastocyst telomere length predicts successful implantation after frozen-thawed embryo transfer Human reproduction open2024:hoae012 2023 |
| PubMed ID: 38515829 |
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| 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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| Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejjani BA, Shaffer LG, Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization Prenatal diagnosis26:333-9 2006 |
| PubMed ID: 16491513 |
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| Mutter GL, Pomponio RJ, Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nucleic Acids Res19:4203-7 1991 |
| PubMed ID: 1678507 |
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