NA00657
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 |
50 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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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,der(7)t(7;18)(q35;q12.2)mat,der(18)t(8;18)(q24.22;q12.2).ish der(7)t(7;18)(G31340-,D18S1390+,wcp18+),der(18)t(8;18)(wcp18+,D18S1390-,G31340-,D8S1925+).arr 7q35q36.3(143527172-158812469)x1,8q24.22q24.3(132381895-146268947)x3
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 7: DERIVATIVE CHROMOSOME Aneuploid Segment (-)7q34>7qter |
| Remarks |
Cleft palate; microcephaly; developmental delay; similarly affected cousin; clinically normal mother has balanced t(7;18) in lymphocytes; deletion of 7q34 q36 |
| 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 2021 |
| 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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| Vance GH, Nickerson C, Sarnat L, Zhang A, Henegariu O, Morichon-Delvallez N, Butler MG, Palmer CG, Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. Am J Med Genet76:51-7 1998 |
| PubMed ID: 9508065 |
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| Mackay M, Fantes J, Scherer S, Boyle S, West K, Tsui LC, Belloni E, Lutz E, Van Heyningen V, Harmar AJ, Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype. Genomics37:345-53 1996 |
| PubMed ID: 8938447 |
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| Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergnaud G, Scherer SW, et al, Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet3:247-51 1993 |
| PubMed ID: 8485580 |
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| Punnett HH, Kistenmacher ML, Miller RC, Greene AE, Coriell LL, A (7;18) translocation. 46,XY. Repository identification No. GM-657. Cytogenet Cell Genet24:126 1979 |
| PubMed ID: 477406 |
| View |
FISH FITC detects 8pter->8qter, DAPI counterstain |
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FISH FITC detects 8pter->8qter, DAPI counterstain |
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FISH FITC detects D8S1925(8qter),Texas Red detects D18S1390(18qter), DAPI counterstain |
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FISH FITC detects D8S1925(8qter),Texas Red detects D18S1390(18qter), DAPI counterstain |
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FISH Spectrum Green detects G31340 that is a 7qter marker |
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karyotype Spectrum Green detects G31340 that is a 7qter marker |
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karyotype Spectrum Green detects G31340 that is a 7qter marker |
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karyotype Spectrum Green detects G31340 that is a 7qter marker |
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karyotype Spectrum Green detects G31340 that is a 7qter marker |
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