Prenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: A Case Report
| Autor: | Catherine Turleau, Nicole Morichon-Delvallez, Jean-Paul Bonnefont, Damien Sanlaville, Marie-Cécile Aubry, Alexandra Benachi, Valérie Malan, C. Fekete-Nihoul, Michel Vekemans, R. Gesny |
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| Rok vydání: | 2007 |
| Předmět: |
Genotype
Prenatal diagnosis Haploidy Biology Chimera (genetics) Prenatal Diagnosis medicine Humans 46 XX/46 XY Advanced maternal age Allele Alleles X chromosome Genetics Chromosomes Human X Chromosomes Human Y Polymorphism Genetic Autosome medicine.diagnostic_test Rehabilitation Infant Newborn Obstetrics and Gynecology medicine.disease Phenotype Treatment Outcome Reproductive Medicine Karyotyping Amniocentesis Female Maternal Age |
| Zdroj: | Human Reproduction. 22:1037-1041 |
| ISSN: | 1460-2350 0268-1161 |
| DOI: | 10.1093/humrep/del480 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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