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
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis and In situ hybridization
|
|
ISCN
|
46,XX,del(17)(p12p11.1)mat.ish del(17)(D17Z1+).arr 17p12p11.1(13050910-22159777)x1
|
|
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 17: DELETION Aneuploid Segment (-)17p11>17p10 |
| Remarks |
Mental retardation, short stature, developmental delay, & minor anomalies; normal CT scan |
| 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 |
| |
| Wevrick R, Earnshaw WC, Howard-Peebles PN, Willard HF, Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement. Mol Cell Biol10:6374-80 1990 |
| PubMed ID: 2247061 |
| |
| Howard-Peebles, A stable supernumary chromosome derived from a deleted segment of 17p. Am J Hum Genet37:A97 (1985):6374-80 1985 |
| PubMed ID: 2247061 |
|
|