Pregnancy outcome following prenatal diagnosis of an isodicentric X chromosome: first case report |
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| Authors: | A Lebbar G Viot S Szpiro-Tapia F Baverel D Rabineau J M Dupont |
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| Institution: | 1. Service d'Histologie-Embryologie-Cytogénétique, Hôpital Cochin-Port Royal, AP/HP-Université Paris 5, Paris, France;2. Maternité, Hôpital Cochin-Port Royal, AP/HP-Université Paris 5, Paris, France;3. Laboratoire Pasteur Cerba 95066 Cergy Pontoise cedex 9, France |
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| Abstract: | An isodicentric X chromosome, idic (X)(q27) was found in a female fetus during cytogenetic studies performed on amniotic cells due to advanced maternal age. No mosaicism was observed. Although segmental inversion duplications have been described for several other chromosomes, isodicentric chromosomes are reported only for gonosomes. Genetic counselling was based on ultrasound findings, cytogenetic replication studies and published cases of X chromosomes duplications ascertained pre- and postnatally. The pregnancy resulted in the birth of a healthy female infant. Copyright © 2002 John Wiley & Sons, Ltd. |
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| Keywords: | X chromosome isochromosome prenatal diagnosis |
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