Description:
CHROMOSOME DELETION
ESTERASE D; ESD S-FORMYLGLUTATHIONE HYDROLASE, INCLUDED; FGH, INCLUDED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| 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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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,del(13)(q13q21).arr 13q13.1q21.31(32302481-63967037)x1
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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 and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 13: DELETION Aneuploid Segment (-)13q12>13q21 |
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Chromosome 13: DELETION Aneuploid Segment (-)13q12>13q21 |
| Remarks |
Developmental delay; growth retardation; mild facial dysmorphism; normal eye exam; 50% of normal Esterase D activity in blood; 46,XX,del(13)(pter>q12.3::q21.2> qter) |
| 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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| Ramanathan Y, Reza SM, Young TM, Mathews MB, Pe'ery T, Human and rodent transcription elongation factor P-TEFb: interactions with human immunodeficiency virus type 1 tat and carboxy-terminal domain substrate. J Virol73:5448-58 1999 |
| PubMed ID: 10364292 |
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| Barr FG, Sellinger B, Emanuel BS, Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. Genomics11:941-7 1991 |
| PubMed ID: 1783402 |
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| Warburton D, Gersen S, Yu MT, Jackson C, Handelin B, Housman D, Monochromosomal rodent-human hybrids from microcell fusion of human lymphoblastoid cells containing an inserted dominant selectable marker. Genomics6:358-66 1990 |
| PubMed ID: 2307476 |
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