Sex chromosome mosaicism in man

Chromosomal mosaicism in a case of Klinefelter's syndrome associated with thalassaemia

“…The clinical and laboratory findings on this patient are typical of Klinefelter's syndrome and the cytological findings are consistent with the diagnosis, In addition to the simple XXY constitution, other sex chromosomal constitutions reported in patients with the features of Klinefelter's syndrome include XXX Y , with double sex chromatin bodies in the buccal smear (Ferguson-Smith et al. 1960;Barr & Carr, 1961); XXXXY with triple sex chromatin bodies and XXY Y (Muldal& Ockey, 1960;Cam, Barr & Plunkett, 1961; Ellis, Miller, Penrose & Scott, 1961).…”

True hermaphroditism or gonadal intersexuality. Cytogenetic and gonadal analyses of 5 new examples related to 67 known cases studied cytogenetically.

“…Those of Botella-Llusia (1960)cited by Guinet et al (1965), Turpin, Lejeune, and Breton (1962), Clavero et al (1965), and Knorr et al (1968 were true hermaphrodites, but the patients described by Ford et al (1959), Hayward (1960, and Hecht et al (1966) had features of Klinefelter's syndrome with gonads, presumed to be testes, descended into the scrotum. No details of the gonadal and urogenital findings of the eighth patient were given in the paper by Raha, Sarkar, and Mukherjee (1967).…”

Mosaicism in man, involving the autosome associated with mongolism

“…Such a view accords with the increase in frequency of the normal 46 chromosome stem-line relative to the abnormal 47 chromosome one, and the decrease in frequency of the more abnormal 48 chromosome stem-line observed in the present mosaic. Ford et al (i 959b), Ford (1960) and Hayward (1960), postulate similar origins for the XXY/XX and XO/XX mosaics, that is, mitotic non-disjunction in the second or later cleavage divisions of abnormal XXY and XO zygotes. Hayward considers that the presence of an unbalanced genotype, as in the XXY Klinefelter syndrome, might make mitotic non-disjunction more likely.…”