论文信息 - Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency. Copyright © 2006 John Wiley & Sons, Ltd.

[1] D. Wieczorek,et al. Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype? , 2003, American journal of medical genetics. Part A.

[2] S. Soukup,et al. Partial trisomy 20p: familial occurrence. , 2000, American journal of medical genetics.

[3] P. Grammatico,et al. 20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome , 1992, Clinical genetics.

[4] J. Burn,et al. Partial trisomy 20p resulting from a recombination of a familial pericentric inversion , 1986, Human Genetics.

[5] A. Schinzel. Trisomy 20pter»q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother , 1980, Human Genetics.

[6] N. Archidiacono,et al. Trisomy 20p from maternal t(3;20) translocation. , 1979, Journal of medical genetics.

[7] U. Francke,et al. Partial trisomy 20p derived from a t(18;20) translocation , 1976, Human Genetics.

[8] R. Sparkes,et al. Partial F trisomy associated with familial F-13 translocation detected and identified by parental chromosome studies. , 1971, The Journal of pediatrics.