NA07412
DNA from Fibroblast
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 |
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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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(7)(q32).arr 7q32.3q36.3(131449883-158812469)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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| Passage Frozen |
1 |
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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 7: DELETION Aneuploid Segment (-)7q32>7qter |
| Remarks |
Developmental delay; abnormal neurological examination; microcephaly, hypospadias, heart murmur, facial and extremity abnormalities; both parents have normal karyotypes |
| 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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| Varley H, Di S, Scherer SW, Royle NJ, Characterization of terminal deletions at 7q32 and 22q13.3 healed by De novo telomere addition. Am J Hum Genet67(3):610-22 2000 |
| PubMed ID: 10924407 |
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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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| Trent JM, Witkowski CM, Clarification of the chromosomal assignment of the human P- glycoprotein/mdr1 gene: possible coincidence with the cystic fibrosis and c-met oncogene [letter] Cancer Genet Cytogenet26:187-90 1987 |
| PubMed ID: 2881619 |
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