Recombinant X chromosome in a prenatal diagnosis.
Cytogenet Genome Res
; 112(3-4): 337-40, 2006.
Article
em En
| MEDLINE
| ID: mdl-16484792
ABSTRACT
The prenatal cytogenetic study of an amniotic fluid sample of a 39-year-old female showed one X chromosome with a fragment of extra material in the short arm. The G-band pattern suggested that the extra material could be the long arm of an X chromosome. Several complementary studies were performed in order to better clarify the origin of the material. These studies included parental karyotypes, microsatellite typing and comparative genomic hybridization (CGH). The results obtained allowed us to conclude that the derivative chromosome arose de novo as a recombinant X chromosome with duplication of Xq and partial deletion of Xp. Once informed, the parents decided to continue with the pregnancy, after which a healthy girl was born with no apparent disorders.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Recombinação Genética
/
Bandeamento Cromossômico
/
Cromossomos Humanos X
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Cytogenet Genome Res
Assunto da revista:
GENETICA
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Espanha