Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs

Han Xiang Deng*, Kyohko Abe, Ikuko Kondo, Masato Tsukahara, Haruyo Inagaki, Isamu Hamada, Yoshimitsu Fukushima, Norio Niikawa

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

The parental origin and mechanism of formation of polysomy X were studied in five cases (one case of 49,XXXXX; four cases of 49,XXXXY), using various X-linked restriction fragment length polymorphisms as genetic markers. Segregation and densitometric analyses on the polymorphic DNA fragments revealed that, in all five cases, the additional X chromosomes are of maternal origin and the mechanism of formation is most probably a result of three non-disjunctions during maternal meiotic divisions: once at the first meiosis and simultaneously twice at the second meiosis. The identical origin and the identical mechanism of formation among the five cases are unlikely to be coincidental and suggest a common cause in the mothers of the five cases.

Original languageEnglish (US)
Pages (from-to)541-544
Number of pages4
JournalHuman Genetics
Volume86
Issue number6
DOIs
StatePublished - Apr 1991

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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