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1.  Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern. 
Journal of Medical Genetics  1982;19(6):463-465.
An isodicentric X chromosome (46, X idic (X)(pter leads to qter::qter leads to pter)) with a single functioning centromere was found in all lymphocytes and fibroblasts examined from a female patient 171.5 cm in height presenting with primary amenorrhoea. Replication of the abnormal chromosome was consistently late. In some cells the pattern was asymmetrical but the asymmetry did not appear to relate to the position of the active centromere.
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PMCID: PMC1048964  PMID: 7154045
2.  Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. 
Journal of Medical Genetics  1982;19(1):49-56.
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 an overall depression of spermatogenesis. Four others, all with major chromosomal abnormalities, had apparently normal spermatogenesis until the primary spermatocyte stage. Two of these had sex autosomal translocations. One, 45,Y,t(X;21), had a complete block at MI, the other, 46,X,t(Y;16), had a partial block at spermatid formation. One man with a reciprocal 2;10 translocation showed delay at all stages beyond spermatocyte formation and one man with an inversion of chromosome 3 showed impaired spermatid maturation.
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PMCID: PMC1048819  PMID: 7069747

Results 1-2 (2)