Description:
TETRALOGY OF FALLOT
CHROMOSOME DELETION
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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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Ethnicity
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JEWISH
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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,XY,del(13)(pter>q21.1::q31.3>qter).arr cgh 13q21.1q31.3(CN_649908>CN_629179)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, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 13: DELETION Aneuploid Segment (-)13q14>13q31 |
| Remarks |
Developmental delay; severe hypotonia; mild facial dysmorphism; esotropia; large ears; no retinoblastoma; parents both have normal karyotypes; 46,XY,del (13)(pter>q14.3::q31.2>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 |
| |
| 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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