Description:
CHROMOSOME DELETION
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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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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,del(3)(p25).arr 3p26.3p25.2(35332-11729807)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 Glucose-6-Phosphate Dehydrogenase and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 3: DELETION Aneuploid Segment (-)3pter>3p25 |
| Remarks |
Small; hypotonic; atrio-ventricular septal defect; hyperthyroidism; refractive amblyopia |
| 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 |
| |
| Phipps ME, Latif F, Prowse A, Payne SJ, Dietz-Band J, Leversha M, Affara NA, Moore AT, Tolmie J, Schinzel A, et al, Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet3:903-8 1994 |
| PubMed ID: 7951234 |
| |
| Mowrey PN, Chorney MJ, Venditti CP, Latif F, Modi WS, Lerman MI, Zbar B, Robins DB, Rogan PK, Ladda RL, Clinical and molecular analyses of deletion 3p25-pter syndrome. Am J Med Genet46:623-9 1993 |
| PubMed ID: 8103286 |
| |
| Ramer JC, Ladda RL, Frankel C, Two infants with del(3)(p25pter) and a review of previously reported cases [see comments] Am J Med Genet33:108-12 1989 |
| PubMed ID: 2665488 |
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