NA07503
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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PORTUGUESE
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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,X,der(X)(Xpter>Xq28::2p21>2pter)mat
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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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| Passage Frozen |
17 |
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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 2: DERIVATIVE CHROMOSOME Aneuploid Segment (+)2pter>2p21 |
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Chromosome 2: DERIVATIVE CHROMOSOME Trisomic Segment 2pter>2p21 |
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Chromosome X: DERIVATIVE CHROMOSOME Aneuploid Segment (-)Xq28>Xqter |
| Remarks |
Congenital heart disease; growth and mental retardation; alacrima; unusual triangular facies; strabismus; frontal bossing; simple, low set, posteriorly rotated ears; hypotonia |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2022 |
| PubMed ID: 35039224 |
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| 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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| Taylor Clelland CL, Levy B, McKie JM, Duncan AM, Hirschhorn K, Bancroft C, Cloning and characterization of human PREB; a gene that maps to a genomic region
associated with trisomy 2p syndrome. Mamm Genome11(8):675-81 2000 |
| PubMed ID: 10920239 |
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| Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, et al, Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell75:1215-25 1993 |
| PubMed ID: 8261515 |
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| Scola, 2p partial trisomy. Am J Hum Genet31:110A (1979):1215-25 1979 |
| PubMed ID: 8261515 |
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