NA05009
DNA from Fibroblast
Description:
XXXXX 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 |
| Quantity |
50 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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49,XXXXX[31]/48,XXXX[15]/48,XXXX,t(1;18)(1qter>1p36::18q21>18qter;18pter>18q21::1p36>1pter)[2]/49,XXXXX,t(1;18)(1qter>1p36::18q21>18qter;18pter>18q21::1p36>1pter)[2]
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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 |
12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter |
| Remarks |
Growth and development delay, hypotonia, mongoloid facies, and unusual hands and feet; 10% of cells are 48,XXXX |
| Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S, Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci U S A101(51):17765-70 2004 |
| PubMed ID: 15591353 |
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| Ota A, Tagawa H, Karnan S, Tsuzuki S, Karpas A, Kira S, Yoshida Y, Seto M, Identification and characterization of a novel gene, C13orf25, as a target for 13q31-q32 amplification in malignant lymphoma. Cancer Res64(9):3087-95 2004 |
| PubMed ID: 15126345 |
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| Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG, High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet20:207-11 1998 |
| PubMed ID: 9771718 |
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| Hornstra IK, Yang TP, Multiple in vivo footprints are specific to the active allele of the X-linked human hypoxanthine phosphoribosyltransferase gene 5' region: implications for X chromosome inactivation. Mol Cell Biol12:5345-54 1992 |
| PubMed ID: 1448069 |
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| Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D, Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science258:818-21 1992 |
| PubMed ID: 1359641 |
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| Riddell DC, Wang HS, Beckett J, Chan A, Holden JJ, Mulligan LM, Phillips MA, Simpson NE, Wrogemann K, Hamerton JL, et al, Regional localization of 18 human X-linked DNA sequences. Cytogenet Cell Genet42:123-8 1986 |
| PubMed ID: 3460742 |
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