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Human Genetics

, Volume 86, Issue 6, pp 541–544 | Cite as

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
Original Investigations

Summary

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.

Keywords

Internal Medicine Metabolic Disease Fragment Length Genetic Marker Length Polymorphism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Han-Xiang Deng
    • 1
  • Kyohko Abe
    • 1
  • Ikuko Kondo
    • 2
  • Masato Tsukahara
    • 3
  • Haruyo Inagaki
    • 4
  • Isamu Hamada
    • 5
  • Yoshimitsu Fukushima
    • 6
  • Norio Niikawa
    • 1
  1. 1.Department of Human GeneticsNagasaki University School of MedicineNagasakiJapan
  2. 2.Departments of Human Ecology and Genetics, Faculty of MedicineUniversity of the RyukyusOkinawaJapan
  3. 3.Department of PediatricsYamaguchi University School of MedicineUbeJapan
  4. 4.Department of PediatricsToyohashi City HospitalAichiJapan
  5. 5.Department of PediatricsHakodate National HospitalHakodateJapan
  6. 6.Division of Medical GeneticsSaitama Children's Medical CenterIwatsukiJapan

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