Description:
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Family Member
|
2
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XY,del(5)(p14p14).ish del(5)(p14p14)(189N21+).arr 5p15.33(160457-416546)x3,5p14.3p14.1(18599244-27464986)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5p14.1>5p14.3
|
| Remarks |
Clinically and mentally normal, but has a 5p14 deletion; father of a son who also has a 5p14 deletion (GM50276) |
| Chen D, Zhen H, Qiu Y, Liu P, Zeng P, Xia J, Shi Q, Xie L, Zhu Z, Gao Y, Huang G, Wang J, Yang H, Chen F, Comparison of single cell sequencing data between two whole genome amplification methods on two sequencing platforms Scientific reports8:4963 2017 |
| PubMed ID: 29563514 |
| |
| 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 |
| |
| Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J, 5p14 deletion associated with microcephaly and seizures. J Med Genet37(2):125-7 2000 |
| PubMed ID: 10662813 |
| View |
FISH Spectrum Green detects 5pter |
|
karyotype Spectrum Green detects 5pter |
|
|