Document Detail


Centromeric association of a microchromosome in a Turner syndrome patient with a pseudodicentric Y.
MedLine Citation:
PMID:  8244347     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 12-year-old patient with Turner syndrome was found to have a complex mosaicism for a microchromosome (MC) and a psu dic(Y)(q11). The MC was smaller than Yp, appeared pale in G, C and late replicating bands, had a pair of small centromeric dots, was associated with other chromosomes in most metaphases, and was rather stable both in size and during mitosis. The psu dic(Y) was Cd-positive only at the active centromere, had two pericentromeric heterochromatic regions, and lacked the Yq12 band. No cells with both abnormal chromosomes were found. To evaluate the association of the MC with all ordinary chromosomes, 857 G-banded cells with the marker were screened. The MC was considered as "associated" whenever the distance between it and other chromosome(s) was equal to, or smaller than, 18p. Out of 848 associations registered, 489 (57.7%) were centromeric, 202 (23.8%) telomeric, and 157 (18.5%) interstitial; i.e., centromeric associations were overrepresented (P < 0.001) and showed a random distribution, except for an excessive involvement of chromosome 8. This association pattern, also exhibited by two similar MCs in human beings, the minute Y of a marsupial and certain B chromosomes in plants, probably reflects the Rabl orientation of chromosomes in interphase.
Authors:
H Rivera; M G Domínguez; A I Vásquez; A L Ramos; R Fragoso
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  92     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-01-05     Completed Date:  1994-01-05     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  522-4     Citation Subset:  IM    
Affiliation:
División de Genética, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
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MeSH Terms
Descriptor/Qualifier:
Centromere / ultrastructure*
Chi-Square Distribution
Child
Chromosome Aberrations*
Female
Heterochromatin / ultrastructure
Humans
Interphase
Mosaicism*
Turner Syndrome / genetics*
Y Chromosome*
Chemical
Reg. No./Substance:
0/Heterochromatin

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


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