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 (60 were azoospermic, 100 were oligospermic and 5 were asthenospermic). We studied 100 metaphases per patient with GTG banding obtained from temporary lymphocyte culture for chromosomal abnormality detection and performed a genomic DNA analysis using 28 Y chromosome-specific sequencetagged sites for Y AZF microdeletion detection. Karyotyping revealed somatic anomalies in 16 subjects (16/165 = 9.6%). Of these 16, 12 were in the azoospermic group (12/60 = 20%) and 4 were in the oligospermic group (4/100 = 4%). The most common chromosomal anomaly was Klinefelter syndrome (10/165 = 6%). Microdeletions of AZF genes were detected in 12 subjects (12/160 = 7.5%). The frequencies detected are similar to those described previously. These results show the importance of genetic evaluation of infertile males prior to assisted reproduction. Such evaluation can lead to genetic counseling and, consequently, to primary and secondary prevention of mental retardation and birth defects.

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.
A triploidia é uma anomalia cromossômica comum encontrada em 1 a 2% das gestações clinicamente reconhecidas e em cerca de 15 a 20% dos abortos espontâneos de causa cromossômica. Em aproximadamente 5% dos casos, uma aneuploidia pode estar também associada (Boué et al., 1985). Descrevemos um recém-nascido do sexo feminino, prematuro (30 semanas de idade gestacional), com microcefalia, dismorfias faciais e alterações de membros, que foi a óbito com 1 dia de vida por insuficiência respiratória. O exame anátomo-patológico da placenta revelou alterações compatíveis com degeneração molar. A necrópsia da criança não evidenciou malformações internas. A análise citogenética de 100 metáfases, obtidas a partir de cultura de tecido renal, evidenciou cariótipo 68,XX[73]/69,XXX[27]. Apenas 9 casos de triploidia 68,XX foram descritos anteriormente, sendo 7 em abortos, 1 em feto de 21 semanas e 1 em recém-nascido a termo. Consideramos que este estudo seja o primeiro da literatura relatando a ocorrência de mosaicismo 69,XXX/68,XX em um recém-nascido vivo. Os autores discutem os achados clínicos e os possíveis mecanismos envolvidos nesta aberração cromossômica

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

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