Document Detail

A tdic(5;15)(p31;p11) chromosome showing variation for constriction in the centromeric regions in a patient with the cri du chat syndrome.
MedLine Citation:
PMID:  456039     Owner:  NLM     Status:  MEDLINE    
Some dicentric chromosomes show only one primary constriction at metaphase and behave in cell division as if they are monocentric. The few previous reports of tdic (translocation dicentric) chromosomes showing one morphologic indicate that among the cells of an individual the same centromere consistently shows the primary constriction. The present case deals with a tdic(5;15)(p13;p11) chromosome that is an exception to this pattern. Scoring 98 GTG-, C-, and QFQ-banded metaphases specifically for primary constrictions revealed 15 (15%) containing a tdic chromosome with a single primary constriction. Among these chromosomes, 8 (8%) were at the chromosome 15 centromere and 7 (7%) were at the chromosome 5 centromere. The remaining 83 (85%) tdic chromosomes showed two primary constrictions. We analyzed a total of 172 metaphases from peripheral blood, and all except 3 (1.7%) contained the tdic chromosome. Among these three cells, the tdic chromosome was broken in two and absent in one, which indicates that there was some unstable separation of this dicentric in cell division. In two metaphases, there was a chromatid gap at the site of one centromere. Possibly, the absence of certain primary constrictions was associated with deletion of centromeres. This mechanism may be a continual source for additional centromere inactivation during the life of this patient. This case demonstrates that for some dicentrics either centromere may become nonfunctional and inactivation can occur more than once within an individual. The karyotype of this patient was 45,XX,tdic(5;15)(p31;p11). Thus, she was monosomic for about 3/4 of the chromosome 5 short arm. Clinically, this infant had a shrill catlike cry and facies of the cri du chat syndrome.
G W Dewald; S J Boros; M M Conroy; R J Dahl; J L Spurbeck; H A Vitek
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Cytogenetics and cell genetics     Volume:  24     ISSN:  0301-0171     ISO Abbreviation:  Cytogenet. Cell Genet.     Publication Date:  1979  
Date Detail:
Created Date:  1979-09-17     Completed Date:  1979-09-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0367735     Medline TA:  Cytogenet Cell Genet     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  15-26     Citation Subset:  IM    
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MeSH Terms
Chromosome Banding
Chromosomes, Human, 13-15*
Chromosomes, Human, 4-5*
Cri-du-Chat Syndrome / genetics*
Infant, Newborn
Translocation, Genetic*

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