A combined approach of conventional and molecular cytogenetics for detailed karyotypic analysis of the small cell lung carcinoma cell line U2020

Until recently the ability to analyze complex karyotypic rearrangements was totally dependent upon light microscopy of G-banded chromosomes. Developments in the area of molecular cytogenetics have revolutionized such analysis, making it possible to determine the nature of complex rearrangements. An extensive analysis has been made of the small cell lung carcinoma (SCLC) cell line U2020, using a combined approach of conventional and molecular cytogenetics, enabling a highly detailed karyotype to be constructed revealing rearrangements previously undetected by G-banding alone. This approach offers the opportunity to reassess other tumor karyotypes, particularly those of high complexity found in solid tumors, for tumor-specific consistent rearrangements indecipherable by conventional karyotyping.     

Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia

Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with survival into adulthood. We present a case, a first-born child, where genetic counselling difficulties arose following ultrasound recognition of short-limbed dwarfism in association with polyhydramnios and an initial incorrect prenatal diagnosis of lethal chondrodysplasia. After birth of the surviving affected infant, the parents had great difficulty accepting that there had been a prenatal misdiagnosis and they were greatly disappointed by our inability to predict the postnatal survival of an infant to whom no hope of life had previously been given. The correct diagnosis was not made until the proband was nearly 1 year old, and the true prognosis then became clearer. This experience underlines the relative ease of prenatal recognition of skeletal growth abnormalities compared with the considerable difficulties experienced in reaching a precise diagnosis. Thus, following prenatal diagnosis of unspecified chondrodysplasia when parents seek definite information about the prognosis, the temptation to be either overpessimistic or overoptimistic should be avoided.     

Paradigms in obstetric nursing]

Recent finding suggest that many fetuses have to adapt to a limited supply of nutrients and in doing so they permanently change their physiology and metabolism. These 'programmed' changes may be the origins of a number of diseases in life, including coronary heart disease and the related disorders stroke, diabetes and hypertension.