Description:
DIGEORGE SYNDROME; DGS
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
| 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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Relation to Proband
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parent
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,t(10;22)(10pter>10q26.3::22q11.21> 22qter;22pter>22q11.21::10q26.3>10qter)
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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 - CHROMOSOME 22 |
FISH analysis with probe N25 for the DiGeorge Syndrome critical region, D22S75, performed by Dr. Deborah Driscoll, Children's Hospital of Philadelphia, showed that this cell culture did not have a deletion in this region. |
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| Cytogenetics |
Chromosome 10: TRANSLOCATION Breakpoint 10q26 t(10;22)10q26 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(10;22)22q11 |
| Remarks |
Proband not in Repository; affected dau has unbalanced translocation; 46,XY, t(10;22)(10pter>10q26.3::22q11.21> 22qter;22pter>22q11.21::10q26.3>10qter), balanced; clinically normal |
| Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE, Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet12(15):1823-37 2003 |
| PubMed ID: 12874103 |
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| Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, Liu Z, Hilliard C, Driscoll D, Goldmuntz E, Meese E, Zwarthoff EC, Williams S, McDermid H, Dumanski JP, Biegel J, Bell CJ, Emanuel BS, Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics35:275-88 1996 |
| PubMed ID: 8661140 |
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| Bell CJ, Budarf ML, Nieuwenhuijsen BW, Barnoski BL, Buetow KH, Campbell K, Colbert AM, Collins J, Daly M, Desjardins PR, et al, Integration of physical, breakpoint and genetic maps of chromosome 22. Localization of 587 yeast artificial chromosomes with 238 mapped markers. Hum Mol Genet4:59-69 1995 |
| PubMed ID: 7711735 |
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| Demczuk S, Aledo R, Zucman J, Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G, Aurias A, Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum Mol Genet4:551-8 1995 |
| PubMed ID: 7633403 |
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| Lamour V, Lecluse Y, Desmaze C, Spector M, Bodescot M, Aurias A, Osley MA, Lipinski M, A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. Hum Mol Genet4:791-9 1995 |
| PubMed ID: 7633437 |
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| Mulder MP, Wilke M, Langeveld A, Wilming LG, Hagemeijer A, van Drunen E, Zwarthoff EC, Riegman PH, Deelen WH, van den Ouweland AM, et al, Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183). Hum Genet96:133-41 1995 |
| PubMed ID: 7635459 |
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| Bucan M, Gatalica B, Nolan P, Chung A, Leroux A, Grossman MH, Nadeau JH, Emanuel BS, Budarf M, Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse. Hum Mol Genet2:1245-52 1993 |
| PubMed ID: 8401507 |
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| Halford S, Wadey R, Roberts C, Daw SC, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay E, Baldini A, et al, Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. Hum Mol Genet2:2099-2107 1993 |
| PubMed ID: 8111380 |
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| Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A, Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics17:403-7 1993 |
| PubMed ID: 8406492 |
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| Driscoll DA, Budarf ML, Emanuel BS, A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet50:924-33 1992 |
| PubMed ID: 1349199 |
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| Cannizzaro LA, Emanuel BS, In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22. Cytogenet Cell Genet39:179-83 1985 |
| PubMed ID: 3930157 |
| dbSNP |
dbSNP ID: 17185 |
| NCBI Gene |
Gene ID:1714 |
| NCBI GTR |
188400 DIGEORGE SYNDROME; DGS |
| OMIM |
188400 DIGEORGE SYNDROME; DGS |
| Omim Description |
CATCH22, INCLUDED |
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CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED |
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DIGEORGE SYNDROME; DGS |
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HYPOPLASIA OF THYMUS AND PARATHYROIDS |
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SHPRINTZEN VCF SYNDROME, INCLUDED |
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TAKAO VCF SYNDROME, INCLUDED |
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THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED |
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VELOCARDIOFACIAL SYNDROME, INCLUDED |
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