Document Detail

Expansion of repetitive DNA into cytogenetically visible elements.
MedLine Citation:
PMID:  11435684     Owner:  NLM     Status:  MEDLINE    
Two cases of amplified repetitive elements accidentally identified in cancer samples are reported. In both cases, repeated DNA that is normally not visible by traditional chromosome banding had increased in amount to become cytogenetically visible. In one case, an addition to the short arm of chromosome 1 was originally diagnosed. However, upon molecular analysis the diagnosis could be corrected to an amplification of the D1Z2 repeat. In the second case, a strongly DAPI-positive band was visible at the top of the short arm of chromosome 22, and the original diagnosis was add(22). Staining for telomeric repeats revealed their presence inside the DAPI-positive element, thus confirming that the element in question was truly added to the end of the chromosome. Curiously, no telomeric repeats could be detected distal to the DAPI-positive element. The identity of the DAPI-positive element could not be established, as it was not stained by any of the specific probes applied, nor in a scanning hybridization with labeled Cot-1 DNA. It thus seems to represent an expansion from some lowly repetitive AT-rich DNA translocated to the tip of chromosome 22.
N Serakinci; B Pedersen; J Koch
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Cytogenetics and cell genetics     Volume:  92     ISSN:  0301-0171     ISO Abbreviation:  Cytogenet. Cell Genet.     Publication Date:  2001  
Date Detail:
Created Date:  2001-07-03     Completed Date:  2001-08-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0367735     Medline TA:  Cytogenet Cell Genet     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  182-5     Citation Subset:  IM    
Copyright Information:
Copyright 2001 S. Karger AG, Basel.
Department of Cytogenetics, Danish Cancer Society, Aarhus C, Denmark.
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MeSH Terms
AT Rich Sequence / genetics
Chromosome Aberrations / genetics
Chromosome Banding
Chromosome Painting
Chromosomes, Human, Pair 1 / genetics
Chromosomes, Human, Pair 22 / genetics
Cytogenetic Analysis*
Gene Amplification / genetics*
Middle Aged
Primed In Situ Labeling
Repetitive Sequences, Nucleic Acid / genetics*
Telomere / genetics
Reg. No./Substance:
0/Indoles; 47165-04-8/DAPI

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