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Journals and Conferences
BACKGROUND Classical cytogenetic methods and fluorescent in situ hybridization (FISH) have been employed for the analysis of chromosomal abnormalities in human oocytes. However, these methods are limited by the need to spread the sample on a microscope slide, a process that risks artefactual chromosome loss. Comparative genomic hybridization (CGH) is a… (More)
OBJECTIVES Constitutional aneuploidy occurs in at least 5% of recognised pregnancies, with apparent preferential involvement of the X chromosome and the smaller autosomes. Molecular cytogenetic investigations of cleavage-stage embryos have revealed anomalies affecting all sizes of chromosomes. The aim was to investigate the variety of anomalies arising… (More)
A cytogenetic survey of 756 resident, but otherwise unselected, mentally retarded patients in a Scottish hospital is reported. The karyotypes of all patients were examined using orcein-stained cells, and those found to be abnormal, other than those with standard trisomy 21, were further investigated using a banding technique. A total of 103 patients were… (More)
The family histories of 131 patients with histologically defined Hodgkin's disease (HD) were studied and 2,517 first and second degree relatives and spouses were identified and followed-up. The causes of death in deceased relatives were ascertained from death certificates. The numbers of deaths from selected causes were compared with the numbers that would… (More)
Studies of spermatogenesis in an XYY male, presenting at a subfertility clinic, confirm the tendency for the germ cells to lose the second Y chromosome but for some XYY cells to reach metaphase I (MI). Light microscope studies of MI revealed the presence of YY bivalents and EM studies of microspread, silver-stained pachytene stages showed 30% of the cells… (More)
Testicular biopsies from eight men with abnormal karyotypes have been examined for histological and cytogenetic evidence of disturbances of meiosis. Quantitative analysis of this material showed one, with a 13;14 Robertsonian translocation, to have apparently normal spermatogenesis. Three patients, one with a 47,XYY and two with 45,XY, inv 9 karyotypes, had… (More)
This study in north east Scotland has shown that Marfan syndrome has a minimal birth incidence of 1:9802 live births, a minimal prevalence of 1:14217, and that 8/30 (26.7%) of cases in our series are new mutations. The calculated mutation rate is 15 +/- 6.7 x 10(-6) and there is evidence of reduced reproductive fitness.
Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.
A patient with Klinefelter's syndrome and a boy with XYY sex chromosomes were both found to have a pericentric inversion of chromosome 9. An unusual feature of the XYY patient was that he presented because of short stature and disturbed behaviour. A family study showed that the patients were related and that there was an excess of males in the pedigree.… (More)
Single cell comparative genomic hybridization (CGH) was employed to extensively investigate 24 unfertilized or in vitromatured meiosis II oocytes and their corresponding first polar bodies (PBs), to determine how and whether all 23 chromosomes participate in female meiosis I errors and to accurately estimate the aneuploidy rate in the examined cells.… (More)