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Abstract 


The parental origin of the single X chromosome in sex-chromosome monosomy was evaluated by comparing restriction fragment length polymorphisms (RFLPs) of 10 spontaneous aborted 45,X conceptions with those of their parents. Seven X-linked marker loci were used, and we were able to specify the origin of the X in nine cases, with six being maternally and three paternally derived. These results demonstrate the efficiency of the technique and show that the single X chromosome in 45,X spontaneous abortions can be derived from either parent.

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Logo of ajhgGuide for AuthorsAbout this journalExplore this journalAmerican Journal of Human Genetics
Am J Hum Genet. 1985 Sep; 37(5): 965–972.
PMCID: PMC1684699
PMID: 2996336

Determination of the parental origin of sex-chromosome monosomy using restriction fragment length polymorphisms.

Abstract

The parental origin of the single X chromosome in sex-chromosome monosomy was evaluated by comparing restriction fragment length polymorphisms (RFLPs) of 10 spontaneous aborted 45,X conceptions with those of their parents. Seven X-linked marker loci were used, and we were able to specify the origin of the X in nine cases, with six being maternally and three paternally derived. These results demonstrate the efficiency of the technique and show that the single X chromosome in 45,X spontaneous abortions can be derived from either parent.

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  • Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet. 1983;64(1):24–27. [Abstract] [Google Scholar]
  • Jacobs PA, Szulman AE, Funkhouser J, Matsuura JS, Wilson CC. Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole. Ann Hum Genet. 1982 Jul;46(Pt 3):223–231. [Abstract] [Google Scholar]
  • Sanger R, Tippett P, Gavin J, Teesdale P, Daniels GL. Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum. J Med Genet. 1977 Jun;14(3):210–211. [Europe PMC free article] [Abstract] [Google Scholar]
  • Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet. 1980 Oct;44(Pt 2):151–178. [Abstract] [Google Scholar]
  • Drayna D, Davies K, Hartley D, Mandel JL, Camerino G, Williamson R, White R. Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. Proc Natl Acad Sci U S A. 1984 May;81(9):2836–2839. [Europe PMC free article] [Abstract] [Google Scholar]
  • Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, et al. A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984 May;36(3):546–564. [Europe PMC free article] [Abstract] [Google Scholar]
  • Page DC, de la Chapelle A. The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am J Hum Genet. 1984 May;36(3):565–575. [Europe PMC free article] [Abstract] [Google Scholar]
  • Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. [Abstract] [Google Scholar]
  • Rigby PW, Dieckmann M, Rhodes C, Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. [Abstract] [Google Scholar]
  • Russell LB, Montgomery CS. The incidence of sex-chromosome anomalies following irradiation of mouse spermatogonia with single or fractionated doses of x-rays. Mutat Res. 1974 Dec;25(3):367–376. [Abstract] [Google Scholar]
  • Hassold T, Chiu D, Yamane JA. Parental origin of autosomal trisomies. Ann Hum Genet. 1984 May;48(Pt 2):129–144. [Abstract] [Google Scholar]
  • Kuliev AM, Grinberg KN, Kukharenko VI, Kulazenko VP, Bogomazov EA. Monosomy 21 in a human spontaneous abortus. Morphogenetic disturbances and phenotype at the cellular level. Hum Genet. 1977 Sep 22;38(2):137–145. [Abstract] [Google Scholar]
  • Ohama K, Kajii T. Monosomy 21 in spontaneous abortus. Humangenetik. 1972;16(3):267–270. [Abstract] [Google Scholar]
  • Takahara H, Ohama K, Fujiwara A. Cytogenetic study in early spontaneous abortion. Hiroshima J Med Sci. 1977 Dec;26(4):291–296. [Abstract] [Google Scholar]
  • Warburton D, Kline J, Stein Z, Susser M. Monosomy X: a chromosomal anomaly associated with young maternal age. Lancet. 1980 Jan 26;1(8161):167–169. [Abstract] [Google Scholar]
  • Brandriff B, Gordon L, Ashworth L, Watchmaker G, Carrano A, Wyrobek A. Chromosomal abnormalities in human sperm: comparisons among four healthy men. Hum Genet. 1984;66(2-3):193–201. [Abstract] [Google Scholar]
  • Martin RH, Balkan W, Burns K, Rademaker AW, Lin CC, Rudd NL. The chromosome constitution of 1000 human spermatozoa. Hum Genet. 1983;63(4):305–309. [Abstract] [Google Scholar]

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NICHD NIH HHS (1)