Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY).
Am J Med Genet
; 93(3): 230-3, 2000 Jul 31.
Article
em En
| MEDLINE
| ID: mdl-10925388
ABSTRACT
We report on a prenatally detected case of discordant non-mosaic karyotypes following chorionic villus sampling. A 45,X karyotype was found in cytotrophoblast cells and a 46,XY karyotype in mesenchymal core cells. A subsequent amniocentesis showed a true 45,X/46,XY mosaicism. Confirmatory studies, including fluorescence in situ hybridization (FISH) in various fetal and placental tissues as well as in the original villi preparations changed the presumed condition of generalized mosaicism with culture confined normality to that of generalized mosaicism with absolute concordance. This case underscores the importance of the investigation of both short-term and cultured villi preparations, the implementation of prenatal FISH studies, and the need for thorough follow-up investigation in cases of discrepant results.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Cromossomo Y
/
Amostra da Vilosidade Coriônica
/
Aberrações Cromossômicas
/
Transtornos Cromossômicos
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article