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
Artigo
em Inglês
| 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:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndrome de Turner
/
Quebra Cromossômica
/
Cromossomos Humanos Y
/
Mosaicismo
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Genet. mol. res. (Online)
Assunto da revista:
Biologia Molecular
/
Genética
Ano de publicação:
2006
Tipo de documento:
Artigo
País de afiliação:
Espanha
Instituição/País de afiliação:
University of A Coruña/ES
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