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[Mosaic phenotypes].

1) Mosaicism results from the mutation in part of somatic cells after the fertilization, only a few cases occur due to mutation during meiosis. Mosaicism is characterized by genetic or functional difference of two or more cell lines in one individual from one zygote. 2) Phenotypical variety is high and depends on the proportion of cell lines of individual clones. 3) Clinical prognosis of mosaic individuum is better in comparison to the full mutation in all cells. 4) The genetic prognosis of reproduction in relatives of the mosaic individuum is without increased recurrent risk, genetic prognosis of own offspring depends on the moment of mutation occurrence--wheit occurs before day 16 to 20 when gonadal cells are differentiated, it represents high risk of transmission. 5) Diagnosis of mixoploids in some cases requests investigation of different cells (fibroblasts, lymphocytes). 6) Clinical "signal" features of the mosaic are hemihypertrophy, asymmetry, Blaschko lines, pigmentations. 7) Risk of malignant tumor is increased, similarly to other chromosomal aberrations, chromosomal instability or hamartomatoses. 8) Mosaics of gene mutation have usually normal mental development and are manifested by external abnormalities only. 9) Incidence of mosaic phenotypes is high and therefore the diagnosis of mixoploids and gene mosaic is important for the estimation of clinical as well as genetic prognosis.

Abnormalities, Multiple↗

Gametes, embryos and the life in being: the impact of reproductive technology on the rule against perpetuities.

As the twenty-first century begins, changing technology is testing old rules of property law. In this Article, the author discusses the effect of modern technology on the Role Against Perpetuities. This discussion includes the arguments for and against recognition of the embryo as a life in being, as well as suggestions for legislative solutions to this issue.

Cryopreservation↗

ACOG technology assessment. Genetics and molecular diagnostic testing. Number 1, July 2002. American College of Obstetrics and Gynecology.

Human genetics and molecular testing is playing an increasingly important role in obstetric and gynecologic practice. It is essential that obstetricians and gynecologists are aware of the advances in our understanding of genetic disease and the fundamental principles of molecular testing and genetic screening as genetics is integrated into routine medical practice. In the future, elucidation of the genetic basis for reproductive disorders, common diseases, and cancer with improved high throughput technology for genetic testing will expand testing opportunities and influence treatment options and prevention strategies.

Female↗