Chromosome segregation in a man heterozygous for a pericentric inversion, inv(9)(p11q13), analyzed by using sperm karyotyping and two-color fluorescence in situ hybridization on sperm nuclei.
作者： P. Colls , J. Blanco , O. Martínez-Pasarell , F. Vidal , J. Egozcue
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摘要: Analysis of sperm karyotypes and two-color fluorescent in situ hybridization (FISH) on nuclei were carried out a man heterozygous for the pericentric inversion inv(9)(p11q13). Sperm chromosome complements obtained after vitro fusion zona-free hamster oocytes donor sperm. A total 314 was analyzed: 153 (48.7%) inverted 9 161 (51.3%) normal one. None contained recombinant 9, suggesting that no chiasmata formed heterochromatic region. The frequency structural aberrations unrelated to (8.3%) conservative aneuploidy (3.2%) within limits observed our control donors. proportions X-bearing (47.3%) Y-bearing (52.7%) not significantly different from expected 1:1 ratio. percentage disomy 21 analyzed by FISH 10336 nuclei. rate (0.30%) found controls. These results suggest risk this producing chromosomally abnormal offspring or spontaneous abortions increased, do support existence an interchromosomal effect 21.
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R H Martin, Cytogenetic analysis of sperm from a man heterozygous for a pericentric inversion, inv (3) (p25q21). American Journal of Human Genetics. ,vol. 48, pp. 856- 861 ,(1991)
R. Gagn�, C. Laberge, R. Tanguay, Aspect cytologique et localisation intranucléaire de l'hétérochromatine constitutive des chromosomes C9 chez l'homme Chromosoma. ,vol. 41, pp. 159- 166 ,(1973) , 10.1007/BF00319692
S E Antonarakis, P A Adelsberger, A A Schinzel, F Binkert, S Basaran, No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements. American Journal of Human Genetics. ,vol. 50, pp. 288- 293 ,(1992)
J Navarro, J Egozcue, M R Martorell, J Benet, C Templado, Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13; q36) by sperm chromosome studies American Journal of Human Genetics. ,vol. 53, pp. 214- 219 ,(1993)
A. Serra, C. Brahe, A. Millington-Ward, G. Neri, B. Tedeschi, F. Tassone, R. Bova, Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. American Journal of Medical Genetics. ,vol. 37, pp. 162- 168 ,(2005) , 10.1002/AJMG.1320370733
O. Gabriel-Robez, C. Ratomponirina, Y. Rumpler, B. Le Marec, J. M. Luciani, M. R. Guichaoua, Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1 Human Genetics. ,vol. 72, pp. 148- 152 ,(1986) , 10.1007/BF00283934
Ren�eH. Martin, JudyE. Chernos, R.Brian Lowry, H.Anthony Pattinson, Leona Barclay, Evelyn Ko, Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1 Human Genetics. ,vol. 93, pp. 135- 138 ,(1994) , 10.1007/BF00210597
W. Balkan, K. Burns, R.H. Martin, Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 3. Cytogenetic and Genome Research. ,vol. 35, pp. 295- 297 ,(1983) , 10.1159/000131882
D. A. LAURIE, R. W. PALMER, M. A. HULTÉN, Chiasma derived genetic lengths and recombination fractions: chromosomes 2 and 9 Annals of Human Genetics. ,vol. 46, pp. 233- 244 ,(1982) , 10.1111/J.1469-1809.1982.TB00715.X
R.H. Martin, Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion, inv(8)(p23q22). Cytogenetic and Genome Research. ,vol. 62, pp. 199- 202 ,(1993) , 10.1159/000133475