论文信息 - Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.

Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.

Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well.

[1] J. Egozcue,et al. Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13;q36) by sperm chromosome studies. , 1993, American journal of human genetics.

[2] D. Warburton,et al. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. , 1991, American journal of human genetics.

[3] M. Seabright,et al. Paracentric inversions in man. , 1984, Journal of medical genetics.

[4] C. Chapman,et al. Familial paracentric inversion of 1p. , 1983, American journal of medical genetics.

[5] H. Wyandt,et al. Interstitial 3p deletion in a child due to paternal paracentric inserted inversion. , 1980, American journal of human genetics.

[6] V. Demoulin,et al. Protein and nucleic acid sequence data and phylogeny. , 1979, Science.

[7] S. Hoegerman. Chromosome 13 long arm interstitial deletion may result from maternal inverted insertion. , 1979, Science.

[8] R. Martin. Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion, inv(8)(p23q22). , 1993, Cytogenetics and cell genetics.

[9] T. Ikeuchi. Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. , 1984, Cytogenetics and cell genetics.