Biomedical subjects
Publications and source records attributed to M G Daker.
The products of a 14 week spontaneous abortion were examined and found to contain an embryo at a developmental age of around 35 days. It had a cystic lumbosacral spina bifida and was trisomic for chromosome 9.
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Two new cases of acute myeloid leukaemia occurring after razoxane therapy are recorded and further haematological and cytogenetic details of two cases previously reported are described. The need for long-term follow-up after patients discontinue razoxane therapy is emphasized.
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Karyotype/phenotype correlations in six non-mosaic patients with dysgenetic ovaries and partial deletions of the X-chromosome (three patients with short arm, and three with long arm deletions) are presented and the pertinent literature is analysed. It would appear that functioning ovarian tissue is present more often in patients with a short arm deletion than in those with a deleted long arm. This may represent a difference in the strength of two sets of controlling factors, but it can also be related to break point position. This in turn may be misinterpreted due to the difficulty in distinguishing between terminal and interstitial deletions in the long arm. Stature may be a heterochromatic effect, but if specific genetic factors influencing stature exist, then they would appear to be situated mostly on the short arm of the X-chromosome, although some 'statural determinants' occur also on the long arm and could be located rather close to the centromere. Deletions of the short arm of the X-chromosome were almost always associated with some features of the Turner phenotype, and could possibly be related to a gene dosage effect.
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A boar with testicular hypoplasia had 39 chromosomes. Giemsa banded preparations permitted unambiguous identification of an XXY sex chromosome constitution. Spermatogenic tissue was absent as in X chromatin-positive Klinefelter syndrome of man.
Chromosome studies were performed on 30 patients undergoing 90Y synovectomy before and after therapy. It was observed that overall there was a small but significant rise from 0.33% to 0.87% in the frequency of cells with specific chromosome aberrations following treatment. These findings agree well with those of other surveys. Analysis of individual results show that, of the 30 patients, only 10 showed chromosome damage that could be attributed unequivocally to the 90Y therapy.
The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described.
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A 37 year-old woman with a twin pregnancy underwent amniocentesis to exclude fetal chromosome abnormality. The results indicated that both fetuses were mosaics, with 45,X and 46,XX, cell lines. Since it was suspected from the ultrasound scan that the twins were dizygotic, the result was questioned. Fetoscopy and fetal blood sampling were performed and karyotyping the fetal lymphocytes confirmed that one twin was indeed a mosaic, 45,X/46,XX, but the other had a normal male chromosome complement. The pregnancy resulted in the birth of a phenotypically normal girl, in whom the 45,X/46,XX mosaicism was confirmed, and a normal boy.