Description:
XXXX 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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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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48,XXX,t(X;6)(Xpter>Xq24::6q27>6qter;6pter>6q27::Xq24>Xqter)[26]/48,XXXX[22]/47,XXX[1]/48,XX,del(X)(pter>q24::),t(X;6)(Xpter>Xq24::6q27>6qter;6pter>6q27::Xq24>Xqter)[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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| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Remarks |
Developmental delay; moderate retardation; delayed language development; abnormal dermatoglyphics; bilateral epicanthal folds; small mandible; bilateral dermato-lipomas; lens opacities; high arched palate; mildly hypotonic; normal menses; see GM01416B Lymphoid |
| 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 |
| |
| 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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| 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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| Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH Jr, Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci U S A84:9248-51 1987 |
| PubMed ID: 3480541 |
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| Oberle I, Camerino G, Kloepfer C, Moisan JP, Grzeschik KH, Hellkuhl B, Hors-Cayla MC, Van Cong N, Weil D, Mandel JL, Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet72:43-9 1986 |
| PubMed ID: 3002952 |
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| Camerino G, Grzeschik KH, Jaye M, De La Salle H, Tolstoshev P, Lecocq JP, Heilig R, Mandel JL, Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci U S A81:498-502 1984 |
| PubMed ID: 6320191 |
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| Daiger SP, Wildin RS, Su TS, Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase. Nature298:682-4 1982 |
| PubMed ID: 7099264 |
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| Wolf SF, Mareni CE, Migeon BR, Isolation and characterization of cloned DNA sequences that hybridize to the human X chromosome. Cell21:95-102 1980 |
| PubMed ID: 7190879 |
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| Howard-Peebles PN, Markiton RI, A tera-X female: cytogenetic testing, dermatoglyphic studies, and speech impairment. Am J Ment Defic84:252-255 1979 |
| PubMed ID: 525653 |
| Passage Frozen |
6 |
| 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 |
- |
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