Description:
TRANSLOCATED CHROMOSOME
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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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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XX,+der(22)t(11;22)(q23;q11.2).ish der(22)t(11;22)(TUPLE1+,ARSA-,MLL+,D11S1037+).arr 11q23.3q25(116188703-134449982)x3,22q11.1q11.21(14435170-18676540)x3
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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 Chromosome Analysis |
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| Cytogenetics |
Chromosome 11: DERIVATIVE CHROMOSOME Aneuploid Segment (+)11q23>11qter |
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Chromosome 11: DERIVATIVE CHROMOSOME Trisomic Segment 11q23>11qter |
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Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (+)22pter>22q11 |
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Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (+)22pter->22q11.2 |
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Chromosome 22: DERIVATIVE CHROMOSOME Trisomic Segment 22pter>22q11 |
| Remarks |
Hypotonia, developmental delay, ear pits, long philtrum, microretrognathia, high palate, long tapered fingers, slight frontal bossing, and small upslanted palpebral fissures; mother is GM06229A Lymphoid |
| 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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| Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE, AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation. Am J Hum Genet68(1):1-13 2001 |
| PubMed ID: 11095996 |
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| Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE, A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet65(6):1608-16 1999 |
| PubMed ID: 10577914 |
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| Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M,
Cannizzaro L, Shanske A, Morrow BE, Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a
1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet64(3):747-58 1999 |
| PubMed ID: 10053009 |
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| Cotter FE, Das S, Douek E, Carter NP, Young BD, The generation of DNA probes to chromosome 11q23 by Alu PCR on small numbers of flow-sorted 22q- derivative chromosomes. Genomics9:473-80 1991 |
| PubMed ID: 2032719 |
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