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A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism 74
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
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300002
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Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features 54
Ferreira,A.P.S.; Mazzucatto,L.F.; Ramos,E.S.; Pina-Neto,J.M..
A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Trisomy 13 mosaicism; Skin fibroblasts; Psychomotor retardation; Pigmentary dysplasia; Dysmorphic features.
Ano: 1996 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400023
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Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men 56
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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