Document Detail

The presence of interstitial telomeric sequences in constitutional chromosome abnormalities.
MedLine Citation:
PMID:  1570843     Owner:  NLM     Status:  MEDLINE    
We describe a novel chromosome structure in which telomeric sequences are present interstitially, at the apparent breakpoint junctions of structurally abnormal chromosomes. In the linear chromosomes with interstitial telomeric sequences, there were three sites of hybridization of the telomere consensus sequence within each derived chromosome: one at each terminus and one at the breakpoint junction. Telomeric sequences also were observed within a ring chromosome. The rearrangements examined were constitutional chromosome abnormalities with a breakpoint assigned to a terminal band. In each case (with the exception of the ring chromosome), an acentric segment of one chromosome was joined to the terminus of an apparently intact recipient chromosome. One case exhibited apparent instability of the chromosome rearrangement, resulting in somatic mosaicism. The rearrangements described here differ from the telomeric associations observed in certain tumors, which appear to represent end-to-end fusion of two or more intact chromosomes. The observed interstitial telomeric sequences appear to represent nonfunctional chromosomal elements, analogous to the inactivated centromeres observed in dicentric chromosomes.
V M Park; K M Gustashaw; T M Wathen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of human genetics     Volume:  50     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1992 May 
Date Detail:
Created Date:  1992-05-26     Completed Date:  1992-05-26     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  914-23     Citation Subset:  IM    
Genetics Center, Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106.
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MeSH Terms
Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Aberrations / genetics*
Chromosome Disorders
Consensus Sequence / genetics
Infant, Newborn
Mental Retardation / genetics
Nucleic Acid Hybridization
Prader-Willi Syndrome / genetics
Ring Chromosomes
Translocation, Genetic / genetics

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