1994
DOI: 10.1007/bf00201605
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Parental origin of the extra chromosomes in polysomy X

Abstract: Five polymorphic index markers were analyzed by polymerase chain reaction (PCR) to ascertain the parental origin of the extra X chromosomes in seven polysomic cases (one 49,XXXXX, three 49,XXXXY, two 48,XXXY, and one 48,XXYY). All four X chromosomes in 49, X polysomies were maternal in origin and the extra X chromosomes in 48 X polysomies were paternal. In each case the multiple X chromosomes were contributed by a single parent. Taken together with previously reported cases, these data support a single mechani… Show more

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Cited by 31 publications
(14 citation statements)
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“…The 48,XXYY abnormality is thought to arise from paternal non-disjunction, which occurs during both meiosis I and meiosis II. Advanced paternal age found both in our case and in Zhang's case appears to be a risk factor of the syndrome [6].…”
Section: Discussionsupporting
confidence: 58%
“…The 48,XXYY abnormality is thought to arise from paternal non-disjunction, which occurs during both meiosis I and meiosis II. Advanced paternal age found both in our case and in Zhang's case appears to be a risk factor of the syndrome [6].…”
Section: Discussionsupporting
confidence: 58%
“…Very few studies have reported on further molecular investigations in XXYY males. The parent-of-origin of the extra chromosomes has been evaluated in six cases, and all have identified the extra chromosomes as being paternal in origin [Rinaldi et al, 1979;Leal et al, 1994;Iitsuka et al, 2001]. It is believed that the phenotypic differences in XXYY syndrome and other SCAs likely result from gene dosage effects of genes in the pseudoautosomal regions (PAR) of the X and Y chromosomes that escape X-inactivation.…”
Section: Discussionmentioning
confidence: 99%
“…[3] Fertilization of an ovum could occur by a sperm bearing X and Y chromosomes, with subsequent mitotic nondisjunction. The production of an aneuploid sperm could result from meiotic nondisjunction or a mitotic nondisjunction in a spermatogonium, or a gonadal mosaicism caused by either mitotic or meiotic nondisjunction (14,15). [4] Rarely, fusion of XY and XX disomic gametes could result from errors in both paternal meiosis I and maternal meiosis (I or II).…”
Section: Discussionmentioning
confidence: 99%