Studies of human chromosomal anomalies by tissue culture methods

Boyd, Elizabeth (1966) Studies of human chromosomal anomalies by tissue culture methods. PhD thesis, University of Glasgow.

Abstract

A description is given of the methods of culturing samples of bone marrow and peripheral blood material for the purpose of studying the human chromosome complement. The normal human karyotype is described. An account is then given of the application of these methods to the investigation of the chromosome complement in patients with various conditions, (a) Mongolism. Studies were performed in twenty families whore the mother was under 30 years of age when her mongol child was born. One translocation mongol was found; this translocation was thought to have arisen spontaneous since both parents had normal karyotypes. One mother was found to be a mosaic of a normal cell-line and a cell-line trisomic for chromosome 21. Studies were also carried out on two families with two mongol children, but no translocation was found. on two mongols with a higher I.Q. than average, both of whom proved to be trisomic for chromosome 21 and on five children where the diagnosis of mongolism was in doubt. Three of these had normal karyotypes, while the other two were trisomic for chromosome 21. (b) Abnormalities of the sex chromosomes. Chromosome studies wore performed on. four adult patients in a hospital for the mentally deficient who had been found to have two sex chromatin bodies in a proportion of cells in smears from their buccal mucosa. All had 47/XXX chromosome constitution. Among 12 patients studied who had chromatin positive Klinefelter's syndrome, three were found to have an unusual chromosome constitution. They had karyotypes XX, XXX/XXXY, and XXXXY respectively. The remaining patients had the typical 47/XXX chromosome constitution. Three patients with chromatin negative Klinefelter`s syndrome had a 46/XY chromosome complement. Studies were carried out on nine cases or doubtful cases of Turner's syndrome. Two of these patients were mosaics of two cell-lines the first was an XO/XX mosaic, the second had an XO cell-line and a cell-line containing a normal X chromosome and an isochromosome for the long arm of the X. Two other individuals had an XO karyotype, while the remainder had a normal female complement. (c) Various pathological conditions. Chromosome studies were carried out in 43 patients with a variety of conditions where it was thought that an abnormality might be present. These included genetically inherited conditions, other distinct syndromes, multiple congenital abnormalities and diseases of the blood. One ease with multiple congenital abnormalities had trisomy of chromosome 18, and one case of chronic myeloid leukaemia had an XO cell-line in the bone marrow, with no Philadelphia chromosome present. (d) Patients receiving 131I therapy. Chromosome studies on 19 patients receiving I therapy suggested that this treatment is accompanied by some increase in the number of abnormal cells in the peripheral blood. There seemed to be no evidence that any particular chromosome or chromosome region was preferentially involved.

• Item Type: Thesis (PhD)
• Qualification Level: Doctoral
• Additional Information: Adviser: B Lennox
• Keywords: Genetics
• Date of Award: 1966
• Depositing User: Enlighten Team
• Unique ID: glathesis:1966-73641
• Copyright: Copyright of this thesis is held by the author.
• Date Deposited: 14 Jun 2019 08:56
• Last Modified: 14 Jun 2019 08:56
• URI: https://theses.gla.ac.uk/id/eprint/73641