Molecular analysis of an idic(Y)(qter -->p11.32:: p11.32-->qter) chromosome from a female patient with a complex karyotype
Genet. mol. res. (Online)
;
5(2): 399-406, 2006. tab, ilus
Artículo
en Inglés
| LILACS
| ID: lil-442560
ABSTRACT
A female patient with a structurally abnormal idic(Y) (p11.32) chromosome was studied using fluorescence in situ hybridization and PCR to define the precise position of the breakpoint. The patient had a complex mosaic karyotype with eight cell lines and at least two morphologically distinct derivatives from the Y chromosome. The rearrangement was a result of a meiosis I exchange between sister chromatids at the pseudoautosomal region, followed by centromere misdivision at meiosis II. Due to instability of the dicentric Y chromosome, new cell lines later arose because of mitotic errors occurring during embryonic development. Physical examination revealed a normal female phenotype without genital ambiguity, a normal uterus and rudimentary gonads which were surgically removed.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Síndrome de Turner
/
Rotura Cromosómica
/
Cromosomas Humanos Y
/
Mosaicismo
Límite:
Child, preschool
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Genet. mol. res. (Online)
Asunto de la revista:
Biologia Molecular
/
Genética
Año:
2006
Tipo del documento:
Artículo
País de afiliación:
España
Institución/País de afiliación:
University of A Coruña/ES
Similares
MEDLINE
...
LILACS
LIS