Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction.
Two cases of 47,XXX males were studied, one of which has been published previously (Bigozzi et al. 1980). Analysis of X-linked restriction fragment length polymorphisms revealed that in this case, one X chromosome was of paternal and two were of maternal origin, whereas in the other case, two X chromosomes were of paternal and one of maternal origin. Southern blot analysis with Y-specific DNA probes demonstrated the presence of Y short arm sequences in both XXX males. In one case, the results obtained pointed to a paracentric inversion on Yp of the patient's father. In situ hybridization indicated that the Y-specific DNA sequences were localized on Xp22.3 in one of the three X chromosomes in both cases. The presence of Y DNA had no effect on random X inactivation. It is concluded that both XXX males originate from aberrant X-Y interchange during paternal meiosis, with coincident nondisjunction of the X chromosome during maternal meiosis in case 1, and during paternal meiosis II in case 2.
Scherer
G
G
Institut für Humangenetik, Anthropologie der Universität, Freiburg i. Br., Federal Republic of Germany.
Schempp
W
W
Fraccaro
M
M
Bausch
E
E
Bigozzi
V
V
Maraschio
P
P
Montali
E
E
Simoni
G
G
Wolf
U
U
D000293:Adolescent; D002648:Child; D002871:Chromosome Banding; D015342:DNA Probes; D005260:Female; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D009630:Nondisjunction, Genetic; D009693:Nucleic Acid Hybridization; D014960:X Chromosome; D014998:Y Chromosome
D015342:DNA Probes