Description:
TRANSLOCATED CHROMOSOME
|
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
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,X,der(X)t(X;Y)(p22.2;q11.2).arr Xp22.33p22.2(108464-10580632)x1,Yq11.222q12(19755749-27209311)x1,6q26(162641784-162834267)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
| |
| Remarks |
Imperforate anus, vesicoureteral reflux, retinal pigmentary changes, short stature, microcephaly, small ears with left preauricular pit, & developmental delay; female genitalia; de novo translocation |
| 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 |
| |
| 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 |
| |
| Schnur RE, Wick PA, Sosnoski DN, Bick D, Nussbaum RL, Deletion mapping and a highly reduced radiation hybrid in the Xp22.3- p22.2 region. Genomics15:500-6 1993 |
| PubMed ID: 8468044 |
| |
| Johnston, De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities. Clin Res34:120A (1986):500-6 1986 |
| PubMed ID: 8468044 |
|
|