Cytogenetic studies of a patient with mosaicism of isochromosome 13q and a dicentric (Y;13) translocation showing differential centromeric activity.
Clin Genet
; 24(3): 194-9, 1983 Sep.
Article
em En
| MEDLINE
| ID: mdl-6627723
ABSTRACT
A case is presented in which both an isochromosome and a dicentric translocation with differential centromere activity are found in one individual. Three karyotypes are present 46,XY, -13, + i(13q)/45,X, -13, + psu dic(13)t(13;Y)/45,X, -13, + psu dic(Y)t(Y;13). The isochromosome 13q is found in 23% of cells in blood and 5% in skin. The dicentric (Y;13) chromosome in all of the remaining cells displays differential centromeric activity; the ratio of cells with the active 13 centromere to the active Y centromere is about 3.51. The formation of the isochromosome 13q was a de novo gametic event. The translocation producing the dicentric occurred after fertilization with the breakpoints at band Yq12 and the juxta-centromeric region of the isochromosome 13. The finding of differential centromeric activity in this chromosome indicates that centromere inactivation is not always permanent in a dicentric translocation.
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Base de dados:
MEDLINE
Assunto principal:
Translocação Genética
/
Cromossomo Y
/
Cromossomos Humanos 13-15
/
Mosaicismo
Idioma:
En
Ano de publicação:
1983
Tipo de documento:
Article