Description:
OROFACIAL CLEFT 1; OFC1
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 |
Disorders of Connective Tissue, Muscle, and Bone |
| 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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Ethnicity
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GERMAN
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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,t(10;14)(10qter>10p13::14q24.3> 14qter;14pter>14q24.3::10p13>10pter)
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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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| Cytogenetics |
Chromosome 10: TRANSLOCATION Breakpoint 10p13 t(10;14)10p13 |
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Chromosome 14: TRANSLOCATION Breakpoint 14q24 t(10;14)14q24 |
| Remarks |
Bilateral cleft lip without cleft palate; 46,XY,t(10;14)(p13;q24.3); balanced; history of recurrent miscarriages; son with the same balanced translocation has a ventricular septal defect |
| Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T, Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet6:213-25 1998 |
| PubMed ID: 9781025 |
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| Cowchock S, Apparently balanced chromosome translocations and midline defects [letter] Am J Med Genet33:424 1989 |
| PubMed ID: 2801781 |
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