Human cells in culture: Revislted

Human cells in vitro offer considerable advantages in the study and  detection of defects in human chromosomes and gene products. Of all the  euploid cells of the mammalian organism the fibroblasts are capable of  reflecting many different metabolic disorders. These methods, combined with recently developed techniques for the early detection of genetic  disorders allow the assessment of a 'high risk' pregnancy. Cell hybridization has become of paramount importance to genetic analysis and has proved  very useful in assigning gene information to certain chromosome

A clinical delineation of tachyphemia (cluttering)

Cluttering constitutes one of the most important disorders of speech, language and communication in general. The majority of c1utterers are themselves unaware of the disorder.  The problems of definition, symptomatology, aetiology and relationship to stuttering and hereditary aspects, are discussed. A preliminary case report of a family in which cluttering appears to follow a dominant mode of inheritance, is given. It is concluded that the major symptoms underlying the general cluttering syndrome in the family described, are related to some form of psychoneurological dysfunction with emphasis on a central language imbalance.S. Afr. Med. J., 48, 1624 (1974)

Down's syndrome in South Africa - incidence, maternal age and utilisation of prenatal diagnosis

Down's syndrome (DS) is the most common chromosomal cause of mental retardation, and amniocentesis is the most significant factor affecting its prevalence. In South Africa, prenatal cytogenetic diagnoses have been available for just over a decade and the utilisation and effect of this procedure in the white population born between 1980 and 1984 was evaluated. On the basis of pooled data involving 4939640 births, an overall world mean rate for DS of 1,34/1000 live births (mainly Caucasian) for single-year maternal ages was calculated. Accordingly, 58 cases of DS were expected in the 40 year and older maternal age group in South Africa. Only 34 cases (59%) were detected prenatally, and a further 3 cases were identified by the notification system during the same period and in the same maternal age group. Another 24 DS cases in the maternal age group of 40 years and over could thus potentially have been detected prenatally and prevented, while 21 cases in this age group (36%) could not be accounted for at all. Cost-benefit analyses are shown and the number of amniocenteses required for various maternal age groups to affect the prevention of DS is calculated

Birth defects surveillance· A pilot system in the Cape Peninsula

A pilot birth defects surveillance system was established in 1982 as part of an epidemiological baseline study pertaining to potential changes in water quality in the Cape Peninsula. The methodology used for reporting birth defects for two information systems, one hospital-based and the other population- based, utilising statutory notifications of births, is described. Preliminary birth defect rates by cause are presented for a hospital-based system and are consistent with rates reported internationally. The system based on statutory notifications showed gross under-reporting

The incidence of cleft lip and palate in the Western Cape

ArticleThe incidence of cleft lip and palate in the Western Cape was studied using data from two cleft palate centres and from all plastic surgeons in practice in the area. A high incidence was found among coloureds, while the incidences among whites and blacks were similar to figures reported from other countries.Publishers' versio

Screening for inborn errors of metabolism among mentally retarded patients - Outcome of a survey at the Witrand Care and Rehabilitation Centre

The prevalence of different types of inborn errors of metabolism among the mentally retarded patients at the Witrand Care and Rehabilitation Centre. were determined by means of a biochemical screening survey. These results are compared with those of other surveys in South Africa and abroad. One important result points to substantial differences in the recorded incidences of metabolic defects between surveys. This observation could partially be due to significant differences between the different studies in terms of methodology employed and sampling procedures. The questions raised in this regard are documented and discussed