Description:
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 |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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49,XXXXX
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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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| 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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Cytogenetics |
Chromosome X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter |
| Remarks |
Developmental delay; microcephaly; small for age; low-set ears; bilateral epicanthal folds; decreased muscle tone; low total finger-ridge count; parents both have normal karyotypes |
| 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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| Yim SH, Chung YJ, Jin EH, Shim SC, Kim JY, Kim YS, Hu HJ, Shin SH, Pae HO, Zouali M, Chung HT, The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis Molecular immunology48:1338-43 2010 |
| PubMed ID: 21144590 |
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| Hostetter G, Kim SY, Savage S, Gooden GC, Barrett M, Zhang J, Alla L, Watanabe A, Einspahr J, Prasad A, Nickoloff BJ, Carpten J, Trent J, Alberts D, Bittner M, Random DNA fragmentation allows detection of single-copy, single-exon alterations of copy number by oligonucleotide array CGH in clinical FFPE samples Nucleic acids research38:e9 2009 |
| PubMed ID: 19875416 |
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| Weaver S, Dube S, Mir A, Qin J, Sun G, Ramakrishnan R, Jones RC, Livak KJ, Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution Methods (San Diego, Calif)50:271-6 2009 |
| PubMed ID: 20079846 |
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| Isaksson M, Stenberg J, Dahl F, Thuresson AC, Bondeson ML, Nilsson M, MLGA--a rapid and cost-efficient assay for gene copy-number analysis Nucleic acids research35:e115 2007 |
| PubMed ID: 17823203 |
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| Ji H, Kumm J, Zhang M, Farnam K, Salari K, Faham M, Ford JM, Davis RW, Molecular inversion probe analysis of gene copy alterations reveals distinct categories of colorectal carcinoma Cancer research66:7910-9 2006 |
| PubMed ID: 16912164 |
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| Wang Y, Moorhead M, Karlin-Neumann G, Falkowski M, Chen C, Siddiqui F, Davis RW, Willis TD, Faham M, Allele quantification using molecular inversion probes (MIP) Nucleic acids research33:e183 2005 |
| PubMed ID: 16314297 |
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| Bignell GR, Huang J, Greshock J, Watt S, Butler A, West S, Grigorova M, Jones KW, Wei W, Stratton MR, Futreal PA, Weber B, Shapero MH, Wooster R, High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res14(2):287-95 2004 |
| PubMed ID: 14762065 |
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| Zhao X, Li C, Paez JG, Chin K, Janne PA, Chen TH, Girard L, Minna J, Christiani D, Leo C, Gray JW, Sellers WR, Meyerson M, An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res64(9):3060-71 2004 |
| PubMed ID: 15126342 |
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| Chadwick BP, Willard HF, Chromatin of the Barr body: histone and non-histone proteins associated with or excluded from the inactive X chromosome. Hum Mol Genet12(17):2167-78 2003 |
| PubMed ID: 12915472 |
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| Lage JM, Leamon JH, Pejovic T, Hamann S, Lacey M, Dillon D, Segraves R,
Vossbrinck B, Gonzalez A, Pinkel D, Albertson DG, Costa J, Lizardi PM, Whole genome analysis of genetic alterations in small DNA samples using
hyperbranched strand displacement amplification and array-CGH. Genome Res13(2):294-307 2003 |
| PubMed ID: 12566408 |
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| Omran H, Haffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F, Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. J Am Soc Nephrol12(1):107-13 2001 |
| PubMed ID: 11134256 |
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| Yoshikawa H, Fujiyama A, Nakai K, Inazawa J, Matsubara K, Detection and isolation of a novel human gene located on Xp11.2-p11.4 that escapes X-inactivation using a two-dimensional DNA mapping method. Genomics49:237-46 1998 |
| PubMed ID: 9598311 |
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| De Plaen E, Arden K, Traversari C, Gaforio JJ, Szikora JP, De Smet C, Brasseur F, van der Bruggen P, Lethé B, Lurquin C, Structure, chromosomal localization, and expression of 12 genes of the MAGE family Immunogenetics40:360-9 1994 |
| PubMed ID: 7927540 |
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| Yokoi H, Hadano S, Kogi M, Kang X, Wakasa K, Ikeda JE, Isolation of expressed sequences encoded by the human Xq terminal portion using microclone probes generated by laser microdissection. Genomics20:404-11 1994 |
| PubMed ID: 8034313 |
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| Kere J, Nagaraja R, Mumm S, Ciccodicola A, D'Urso M, Schlessinger D, Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics14:241-8 1992 |
| PubMed ID: 1427839 |
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| Zacksenhaus E, Sheinin R, Molecular cloning, primary structure and expression of the human X linked A1S9 gene cDNA which complements the ts A1S9 mouse L cell defect in DNA replication. EMBO J9:2923-9 1990 |
| PubMed ID: 2390975 |
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| Zacksenhaus E, Sheinin R, Wang HS, Localization of the human A1S9 gene complementing the ts A1S9 mouse L- cell defect in DNA replication and cell cycle progression to Xp11.2---- p11.4. Cytogenet Cell Genet53:20-2 1990 |
| PubMed ID: 2323223 |
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| Tilley WD, Marcelli M, Wilson JD, McPhaul MJ, Characterization and expression of a cDNA encoding the human androgen receptor. Proc Natl Acad Sci U S A86:327-31 1989 |
| PubMed ID: 2911578 |
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| Zacksenhaus E, Sheinin R, Molecular cloning of human A1S9 locus: an X-linked gene essential for progression through S phase of the cell cycle. Somat Cell Mol Genet15:545-53 1989 |
| PubMed ID: 2595454 |
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| Bishop DF, Kornreich R, Desnick RJ, Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci U S A85:3903-7 1988 |
| PubMed ID: 2836863 |
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| Lubahn DB, Joseph DR, Sullivan PM, Willard HF, French FS, Wilson EM, Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science240:327-30 1988 |
| PubMed ID: 3353727 |
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| Zacksenhaus E, Sheinin R, Identification of human gene complementing ts AlS9 mouse L-cell defect in DNA replication following DNA-mediated gene transfer. Somat Cell Mol Genet14:371-9 1988 |
| PubMed ID: 3399963 |
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