Document Detail

Satellite III sequences on 14p and their relevance to Robertsonian translocation formation.
MedLine Citation:
PMID:  11330398     Owner:  NLM     Status:  MEDLINE    
Robertsonian translocations (ROBs) are the most common rearrangements in humans, contributing significantly to genetic imbalance, fetal wastage, mental retardation and birth defects. Rob(14q21q) and rob(13q14q), which are formed predominantly during female meiosis, comprise the majority (approximately 85%) of all ROBs. Previous studies have shown that the breakpoints are consistently located within specific regions of the proximal short arms of chromosomes 13, 14, and 21. The high prevalence of these translocations, the consistent breakpoints found, and the fact that roughly 50% of cases occur sporadically suggest that the sequences at or near the breakpoints confer susceptibility to chromosome rearrangement and that the rearrangements occur through a specific mechanism. To investigate this hypothesis, we developed hamster-human somatic cell hybrids derived from de novo rob(14q21q) patients that contained the translocated chromosome segregated from the other acrocentric chromosomes. We determined the physical order of five satellite III subfamilies on 14p, and investigated their involvement in formation of these de novo translocations.
R Bandyopadhyay; S A Berend; S L Page; K H Choo; L G Shaffer
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology     Volume:  9     ISSN:  0967-3849     ISO Abbreviation:  Chromosome Res.     Publication Date:  2001  
Date Detail:
Created Date:  2001-05-01     Completed Date:  2001-09-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9313452     Medline TA:  Chromosome Res     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  235-42     Citation Subset:  IM    
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
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MeSH Terms
Abnormalities, Multiple / etiology,  genetics*
Chromosome Aberrations / etiology,  genetics*
Chromosome Disorders
Chromosomes, Human, Pair 14 / genetics*
Chromosomes, Human, Pair 21 / genetics
DNA, Satellite*
Down Syndrome / etiology,  genetics
Gene Rearrangement
Translocation, Genetic / genetics*
Reg. No./Substance:
0/DNA, Satellite

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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