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Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely… (More)
We report on two sibs with Dandy-Walker malformation and tetramelic postaxial polydactyly. We conclude that this is a new autosomal recessive syndrome.
The 3 affected children from 2 different wedlocks of the mother have been previously described (11). Search by FISH analysis in the mother revealed she is a carrier of balanced translocation of clear… (More)
In the literature dealing with the impact of genetic counsel in the reproduction decision, two aspects are discussed: 1. memorization and appraisal of the recurrence risk, chosen options for family… (More)
Cytogenetic analyses performed in infertile men showed a frequency of genetic abnormalities definitely higher than in normal population. Cytogenetic analysis is perfectly justified in infertile men… (More)
The authors report the results of chromosomal analyses performed on 6235 amniocenteses and 559 choriocenteses. Whereas the frequencies of chromosomal anomalies observed respectively on amniocenteses… (More)
1000 cases of genetic counseling have been reviewed. Most patients are sent to the genetic center by gynecologists (68.4%), mostly because of a personal or previous familial history (64%). This… (More)