Description:
TRANSLOCATED CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
|
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
|
|
Family Member
|
3
|
|
Relation to Proband
|
maternal uncle
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
47,XY,+der(21)t(3;21)(21pter>21q21:: 3p24.2>3pter)
|
|
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 |
| |
| Cytogenetics |
Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (+)21pter>21q21 |
|
Chromosome 21: DERIVATIVE CHROMOSOME Trisomic Segment 21pter>21q21 |
|
Chromosome 3: DERIVATIVE CHROMOSOME Aneuploid Segment (+)3pter>3p24 |
|
Chromosome 3: DERIVATIVE CHROMOSOME Trisomic Segment 3pter>3p24 |
| Remarks |
Moderate mental retardation with dysmorphic features |
| 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 |
| |
| Hattori M, Toyoda A, Ichikawa H, Ito T, Ohgusu H, Oishi N, Kano T, Kuhara S, Ohki M, Sakaki Y, Sequence-tagged NotI sites of human chromosome 21: sequence analysis and mapping. Genomics17:39-44 1993 |
| PubMed ID: 8406470 |
|
|