Five polymorphic index markers were analyzed by polymerase chain react
ion (PCR) to ascertain the parental origin of the extra X chromosomes
in seven polysomic cases (one 49,XXXXX, three 49,XXXXY, two 48,XXXY, a
nd one 48, XXYY). All four X chromosomes in 49, X polysomies were mate
rnal in origin and the extra X chromosomes in 48 X polysomies were pat
ernal. In each case the multiple X chromosomes were contributed by a s
ingle parent. Taken together with previously reported cases, these dat
a support a single mechanism of sequential nondisjunction during eithe
r maternal or paternal gametogenesis as the cause of higher order sex
chromosome polysomy.