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Biomedical subjects

A E Retief

Publications and source records attributed to A E Retief.

67 records · Page 4Linked to original sources
PubMed1979

Chromosome changes in 17 human neoplasms studied with banding.

Chromosome abnormalities from 17 malignancies that were studied using direct preparations and G-, Q-, and C-banding methods are presented and the findings assessed. The material used was from 6 primary cervical carcinomas, 5 primary and metastatic ovarian carcinomas and 6 other metastatic carcinomas. In general, chromosome 1 was found to be involved more frequently than the others in structural aberrations. These included short arm deletions--the most frequent marker over all the cases--long arm deletions, long arm duplications and various translocations including more complex rearrangements involving different breakpoints. Altogether ten common markers were identified among the cases, of which two were shared between two cervical carcinomas and two more, between a pair of ovarian carcinomas. The evidence in this report is in agreement with the finding of widespread involvement of chromosome 1 in malignancy, but with a particular preponderance in ovarian carcinoma.

Adult↗
PubMed1978

Status and prospects of genetic disease.

The current status of our knowledge of genetic diseases is reviewed. The incidence of monogenic, multifactorial and chromosomal disorders, according to the literature to date, is given, and the possibilities of mass screening programmes are discussed. The prospects for antenatal diagnosis of genetic diseases are reviewed, with emphasis on the indications for amniocentesis and the safety of the procedure. Finally, speculations are made regarding the possible effects of medical and social practices on the frequency of genetic disorders in future generations.

Amniocentesis↗
PubMed1978

[The role of chromosomes in the aetiology of human abortion].

Of 27 specimens of abortus tissue from first-trimester spontaneous abortions investigated, 26% had chromosome abnormalities. In contrast, the investigation showed that the incidence of chromosome abnormalities in 36 midtrimester cases was only 2,8%. Two of 19 ectopic pregnancies had abnormal chromosome complements.

Abortion, Habitual↗
PubMed1975

Clinical and cytogenetic aspects of the 21 deletion syndrome.

The clinical, cytogenetic and dermatoglyphic findings in a patient with a ring chromosome 21 are presented. This anomaly acts as a deletion of chromosomal material and results in specific congenital defects. A comparison is made with 24 cases of deletions involving chromosome 21 described in the literature. Six of these have been studied by means of recently developed chromosome banding techniques. Cases presumably arise through somatic non-disjunction or chromosome breakage. When the chromosomes of both parents are normal the recurrence risk is negligible.

Chromosome Aberrations↗
PubMed1975

Oligozoospermia: a seven-year survey of the incidence, chromosomal aberrations, treatment and pregnancy rate.

No sperm count should be regarded too low to consider extensive treatment in order to improve semen or to correct any possible abnormalities in femal partners. The infertile couple should be given devoted care and advice to improve their sexual relations and their psychological attitude towards the problem of infertility. A pregnancy rate of 51.9% where the husband's count was less than 10 million/ml, offers adequate support for this statement. In cases of mental trauma inflicted on patients by a verdict of inability to achieve parenthood--on people who have already suffered severe psychological shock and tension resulting from a period of infertility--discouragement lessens the already doubtful chances of achieving pregnancy. In no circumstance should oligozoospermic patients receive treatment for infertility unless a chromosomal analysis has been completed and found normal, since our rate of chromosomal anomalies (11.4%) in a group of oligozoospermic patients is considered to be too high.

Cell Count↗
PubMedDate not supplied

A possible increase in the number of metaphase I spermatocytes in testicular biopsy of infertile men with chromosomal aberrations.

During the histological investigation of testicular biopsy of patients with chromosomal aberrations, it was observed that in some of these patients more of the primary spermatocytes were in metaphase I, in comparison with normal testicular biopsy where, according to our investigations, these cells are only seen occasionally. A possible explanation for this phenomenon, which was mainly observed in patients with autosomal chromosome aberrations, is given.

Biopsy↗