Chromosome Abnormalities and Genetic Counselling

Chromosome analysis before birth and its value in genetic counselling.

Chromosome analysis of amniotic cell cultures was achieved in 29 out of 30 consecutive patients who were referred for genetic counselling during pregnancy. Amniocentesis was performed without any apparent untoward maternal or fetal complication. The only pregnancy terminated was that of a carrier of X-linked granulomatous disease, in whom the amniotic cells showed that the fetus was male and al...

Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities.

The causes of the decline in implantation rates observed with increasing maternal age are still a matter for debate. Data from oocyte donation strongly suggest that in women of advanced reproductive age, the ability to become pregnant is largely unaffected while oocyte quality is compromised. The incidence of chromosomal abnormalities in embryos is considerably higher than that reported in spon...

Lysergide and chromosome abnormalities.

Prenatal diagnosis and genetic counselling.

Traditionally genetic counselling has been made up of two parts. The first is the establishment of an accurate diagnosis of the disorder, usually in the child of the parents availing themselves of counsel but sometimes in the consultand himself. The second is the calculation of recurrence risks through knowledge or the best possible assumptions about the mode of inheritance of the disease. When...

Numerical and structural chromosome abnormalities

| Genetic instability, which includes both numerical and structural chromosomal abnormalities, is a hallmark of cancer. Whereas the structural chromosome rearrangements have received substantial attention, the role of whole-chromosome aneuploidy in cancer is much less well-understood. Here we review recent progress in understanding the roles of whole-chromosome aneuploidy in cancer, including t...