Human Genetics

, Volume 94, Issue 4, pp 423–426

Parental origin of the extra chromosomes in polysomy X

  • C. A. Leal
  • John W. Belmont
  • Ron Nachtman
  • J. M. Cantu
  • C. Medina
Original Investigation

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 mechanism of sequential nondisjunction during either maternal or paternal gametogenesis as the cause of higher order sex chromosome polysomy.

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References

  1. Allen RC, Belmont JW (1992) Dinucleotide repeat polymorphism at the DXS178 locus. Hum Mol Genet 1:216Google Scholar
  2. Allen RC, Belmont JW (1993) Trinucleotide repeat polymorphism at DXS101 locus. Hum Mol Genet 2:1508Google Scholar
  3. Allen RC, Spriggs MK, Belmont JW (1993) Dinucleotide repeat in the CD40 ligand gene. Hum Mol Genet 2:828Google Scholar
  4. David D, Márquez RA, Carreiro MH, Moreira I, Boavida MG (1992) Parental origin of extra chromosomes in persons with X chromosome tetrasomy. J Med Genet 29:59–596Google Scholar
  5. Deng H-X, Abe K, Kondo I, Tsukahara M, Inagaki H, Hamada I (1991) Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determinated with RFLPs. Hum Genet 86:541–544Google Scholar
  6. Greenstein RM, Harris DJ, Luzzatti L, Cann HW (1970) Cytogenetic analysis of a boy with the XXXY syndrome: origin of the X-chromosomes. Pediatrics 45:677–685Google Scholar
  7. Grouchy J de, Turleau C (1984) Clinical atlas of human chromosomes. Wiley, New YorkGoogle Scholar
  8. Hassold T, Pettay D, May K, Robinson A (1990) Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy. Hum Genet 85:648–650Google Scholar
  9. Huang THM, Greenberg F, Ledbetter DH (1991) Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences. Hum Genet 86:619–620Google Scholar
  10. Kleczkowska A, Fryns JP, Van den Berghe H (1988) X-chromosome polysomy in the male: the Leuven experience 1966–1987. Hum Genet 80:16–22Google Scholar
  11. Lorda-Sánchez I, Binkert F, Hinkel KG, Moser H, Rosenkranz W, Maechler M, Schinzel A (1992) Uniparental origin of sex chromosome polysomies. Hum Hered 42: 193–197Google Scholar
  12. Maniatis T, Fritsch E, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NYGoogle Scholar
  13. May KM, Jacobs PA, Lee M, Ratcliffe S, Robinson A, Nielsen J, Hassold TJ (1990) The parental origin of the extra X chromosome in 47,XXX females. Am J Hum Genet 46:754–761Google Scholar
  14. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215PubMedGoogle Scholar
  15. Pfeiffer RA, Sanger R (1973) Origin of 48,XXXY: the evidence of the Xg blood groups. J Med Genet 10:142Google Scholar
  16. Plaha DS, Duckett DP, Collacott RA, Young ID (1990) Origin of the X chromosomes in a patient with the 49,XXXXY syndrome. J Med Genet 27:203–204Google Scholar
  17. Rinaldi A, Archidiacono N, Rocchi M, Filippi G (1979) Additional pedrigree supporting the frequent origin of XXYY from consecutive non-disjunction in paternal gametogenesis. J Med Genet 16:225–226Google Scholar
  18. Sanger R, Tippett P, Gavin J (1971) Xg groups and sex abnormalities in people of northern European ancestry. J Med Genet 8: 417–426PubMedGoogle Scholar
  19. Sherman SL, Takaesu N, Freeman SB Grantham M, Phillips C, Blackston RD, Jacobs PA, Cockwell AE, Freeman V, Uchida I, Mikkelsen M, Kurnit DM, Buraczynska M, Keats BJB, Hassold TJ (1991) Trisomy 21: association between reduced recombination and nondisjunction. Am J Hum Genet 49:608–620Google Scholar
  20. Villamar M, Benitez J, Fernández E, Ayuso C, Ramos C (1989) Parental origin of chromosomal nondisjunction in a 49,XXXXY male using recombinant-DNA techniques. Clin Genet 36:152–155Google Scholar
  21. Weber JL (1990) Informativeness of human (dC-dA)n.(dG-dT) polymorphisms. Genomics 7:524–530PubMedGoogle Scholar
  22. Weber JL, May PE (1989) Abundant class of human DNA polymorphism which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388–396PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • C. A. Leal
    • 1
  • John W. Belmont
    • 2
  • Ron Nachtman
    • 2
  • J. M. Cantu
    • 1
  • C. Medina
    • 1
  1. 1.División de GenéticaCentro de Investigación, Biomédica de Occidente, IMSSGuadalajara JalMexico
  2. 2.Institute for Molecular Genetics, Baylor College of MedicineHoustonUSA

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