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| Acosta,A.X.; Peres,L.C.; Mazzucatto,L.F.; Pina-Neto,J.M.. |
| 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 |
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| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300002 |
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| Pina-Neto,J.M.; Carrara,R.C.V.; Bisinella,R.; Mazzucatto,L.F.; Martins,M.D.; Sartoratto,E.; Yamasaki,R.. |
| The objective of the present study was to determine the frequency of somatic chromosomal anomalies and Y chromosomal microdeletions (azoospermia factor genes, AZF) in infertile males who seek assisted reproduction. These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural selection process and some classical chromosomal abnormalities, microdeletions of AZF genes or some deleterious genic mutations could pass through generations. These genetic abnormalities can cause in the offspring of these patients male infertility, ambiguous external genitalia, mental retardation, and other birth defects. We studied 165 infertile men whose infertility was attributable to testicular problems... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cytogenetics; Y microdeletions; Male infertility; Karyotype; Chromosome aberrations. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000400017 |
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