Data/hora: 12/06/2024 15:40:45

Provedor de dados: | 74
País: | Brazil
Título: | A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism
Autores: | Acosta,A.X.; Peres,L.C.; Mazzucatto,L.F.; Pina-Neto,J.M.
Data: | 1998-09-01
Ano: | 1998
Resumo: | Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous abortions produced by chromosome anomalies. We report a premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal abnormalities who died at one day of age due to respiratory failure. The placenta showed partial hydatiform mole. Autopsy revealed no internal malformations. Cytogenetic analysis of 100 metaphases obtained from renal tissue culture revealed a 68,XX[73]/69,XXX[27] karyotype. To our knowledge this is the first report in the literature of 68,XX[73]/69,XXX[27] mosaicism in a liveborn infant.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300002
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47571998000300002
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.21 n.3 1998
Fonte: | info:eu-repo/semantics/openAccess