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Hum. Reprod. Advance Access originally published online on February 1, 2007
Human Reproduction 2007 22(4):1037-1041; doi:10.1093/humrep/del480
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report

Valérie Malan1,5,6, R. Gesny2, N. Morichon-Delvallez1,5, M.C. Aubry3, A. Benachi3, D. Sanlaville1,5, C. Turleau1,5, J.P. Bonnefont2, C. Fekete-Nihoul4 and M. Vekemans1,5

1 Service de Cytogénétique 2 Service de Génétique Moléculaire, University René Descartes-Paris 5, Paris, France 3 Service de Gynécologie Obstétrique, University René Descartes-Paris 5, Paris, France 4 Service de Chirurgie Viscérale, Hôpital Necker Enfants Malades, APHP University René Descartes-Paris 5, Paris, France 5 Université René Descartes-Paris 5, Paris, France

6 To whom correspondence should be addressed at: Service de Cytogénétique et d'Embryologie, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75743 Paris Cedex15, France. Tel.: +33 1 44 49 58 54; Fax: +33 1 44 49 04 17; E-mail: valerie.malan{at}nck.aphp.fr

The phenotypic spectrum of 46,XX/46,XY chimeric patients is variable. It ranges from normal male or female genitalia to different degrees of ambiguous genitalia. Chimerism results from the amalgamation of two different zygotes in a single embryo, whereas mosaicism results from a mitotic error in a single zygote. Several other mechanisms resulting in a chimera have been discussed in the literature. Here, we report on a new case of chimerism (46,XX/46,XY) diagnosed at 17 weeks' gestation on amniocentesis performed because of advanced maternal age. Ultrasound examination revealed normal female external genitalia, and a healthy baby girl was delivered at term.

We used polymorphic markers spanning the X chromosome and several autosomes in order to identify the genetic mechanism involved. Mosaicism was excluded because of the presence of 3 alleles at 11 autosomal and 4 X chromosome loci. On autosomes, the origin of this third allele was maternal for two pericentromeric markers (located on 2p11.2 band and 8p11.2 band), paternal for six markers and paternal or maternal for the other three markers. On the X chromosome, the origin of the third allele was maternal for all four markers. Thus, two different paternal and maternal haploid sets were observed. These results are compatible with a tetragametic chimera.

Key words: chimera/mosaic/prenatal diagnosis

Submitted on September 23, 2006; resubmitted on November 5, 2006; accepted on November 16, 2006.


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